Linked Data
dbSNP Id:
rs1162480440
gnomAD v2:
9-104187169-C-T
gnomAD v3:
9-101424887-C-T
gnomAD v4:
9-101424887-C-T
COSMIC:
COSM3902633
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101424887C>T , CM000671.2:g.101424887C>T | GRCh38 |
| NC_000009.11:g.104187169C>T , CM000671.1:g.104187169C>T | GRCh37 |
| NC_000009.10:g.103226990C>T | NCBI36 |
| NG_012387.1:g.15894G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.955G>A MANE Select | ENSP00000497767.1:p.Ala319Thr | |
| ENST00000648064.1:c.955G>A | ENSP00000497990.1:p.Ala319Thr | |
| ENST00000648758.1:c.955G>A | ENSP00000497731.1:p.Ala319Thr | |
| ENST00000649902.1:c.955G>A | ENSP00000497216.1:p.Ala319Thr | |
| ENST00000374855.8:c.955G>A | ENSP00000363988.4:p.Ala319Thr | |
| ENST00000616752.1:c.918G>A | ENSP00000481363.1:p.Leu306= | |
| NM_000035.3:c.955G>A | NP_000026.2:p.Ala319Thr | |
| NM_000035.4:c.955G>A MANE Select | NP_000026.2:p.Ala319Thr |