Linked Data
dbSNP Id:
rs753600605
ExAC:
12:53701455 C / T
gnomAD v2:
12-53701455-C-T
gnomAD v4:
12-53307671-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307671C>T , CM000674.2:g.53307671C>T | GRCh38 |
| NC_000012.11:g.53701455C>T , CM000674.1:g.53701455C>T | GRCh37 |
| NC_000012.10:g.51987722C>T | NCBI36 |
| NG_016775.1:g.18958G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1459G>A MANE Select | ENSP00000209873.4:p.Val487Ile | |
| ENST00000546562.6:n.2523G>A | ||
| ENST00000547238.6:n.2095G>A | ||
| ENST00000547520.6:n.1575G>A | ||
| ENST00000547757.2:c.*377G>A | ENSP00000448020.2:n.*377G>A | |
| ENST00000548880.2:n.1909G>A | ||
| ENST00000548931.6:c.894G>A | ENSP00000457518.1:p.Leu298= | |
| ENST00000549450.6:n.1393G>A | ||
| ENST00000552161.6:n.2537G>A | ||
| ENST00000672797.1:n.1948G>A | ||
| ENST00000209873.8:c.1459G>A | ENSP00000209873.4:p.Val487Ile | |
| ENST00000394384.7:c.1360G>A | ENSP00000377908.3:p.Val454Ile | |
| ENST00000548931.5:c.894G>A | ENSP00000457518.1:p.Leu298= | |
| ENST00000550286.5:c.1087G>A | ENSP00000446885.1:p.Val363Ile | |
| ENST00000552876.5:n.1802G>A | ||
| NM_001173466.1:c.1360G>A | NP_001166937.1:p.Val454Ile | |
| NM_015665.5:c.1459G>A | NP_056480.1:p.Val487Ile | |
| XM_006719617.2:c.1474G>A | XP_006719680.1:p.Val492Ile | |
| XM_011538777.1:c.1516G>A | XP_011537079.1:p.Val506Ile | |
| XM_011538778.1:c.1501G>A | XP_011537080.1:p.Val501Ile | |
| XM_011538779.1:c.1417G>A | XP_011537081.1:p.Val473Ile | |
| XM_011538780.1:c.1402G>A | XP_011537082.1:p.Val468Ile | |
| XM_011538781.1:c.850G>A | XP_011537083.1:p.Val284Ile | |
| XM_011538778.2:c.1501G>A | XP_011537080.1:p.Val501Ile | |
| XM_011538780.2:c.1402G>A | XP_011537082.1:p.Val468Ile | |
| XR_001748875.2:n.1516G>A | ||
| NM_015665.6:c.1459G>A MANE Select | NP_056480.1:p.Val487Ile | |
| NM_001173466.2:c.1360G>A | NP_001166937.1:p.Val454Ile |