Alternative names (6)
amino acid change • aminoAcidSubstitution • hasAminoAcidChange • hasAminoAcidSubstitution • nucleotideChange • proteinChangeRandom triples
| Subject | Object |
|---|---|
| gptkb:HbS | glutamic acid to valine at position 6 |
| gptkb:Arg389Gly | arginine to glycine |
| gptkb:G13D | glycine to aspartic acid |
| gptkb:R620W | Arginine to Tryptophan at position 620 |
| gptkb:p.P49L | Proline to Leucine at position 49 |
| gptkb:rs316019 | A>C |
| gptkb:G542X | glycine to stop codon at position 542 |
| gptkb:A4V | alanine to valine |
| gptkb:apolipoprotein_E2 | cysteine at position 158 |
| gptkb:R140Q_(IDH2) | Arginine to Glutamine |
| gptkb:I113T | isoleucine to threonine |
| gptkb:BRAF_T599V | Threonine to Valine at position 599 |
| gptkb:Y505H | Tyrosine to Histidine |
| gptkb:M1869T | Methionine to Threonine at position 1869 |
| gptkb:D618A | Aspartic acid to Alanine |
| gptkb:A30P | Alanine to Proline at position 30 |
| gptkb:rs113993960 | c.1521_1523delCTT |
| gptkb:BRAF_V600E-mutant_colorectal_cancer | valine to glutamic acid at position 600 |
| gptkb:Codon_39_nonsense_(beta-thalassemia) | Gln39Ter |
| gptkb:JAK2_V617F_mutation | 1849G>T |