Linked Data
ClinVar Variation Id:
2413544
dbSNP Id:
rs781738941
ExAC:
12:53701481 C / A
gnomAD v2:
12-53701481-C-A
gnomAD v3:
12-53307697-C-A
gnomAD v4:
12-53307697-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307697C>A , CM000674.2:g.53307697C>A | GRCh38 |
| NC_000012.11:g.53701481C>A , CM000674.1:g.53701481C>A | GRCh37 |
| NC_000012.10:g.51987748C>A | NCBI36 |
| NG_016775.1:g.18932G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1433G>T MANE Select | ENSP00000209873.4:p.Arg478Leu | |
| ENST00000546562.6:n.2497G>T | ||
| ENST00000547238.6:n.2069G>T | ||
| ENST00000547520.6:n.1549G>T | ||
| ENST00000547757.2:c.*351G>T | ENSP00000448020.2:n.*351G>T | |
| ENST00000548880.2:n.1883G>T | ||
| ENST00000548931.6:c.868G>T | ENSP00000457518.1:p.Glu290Ter | |
| ENST00000549450.6:n.1367G>T | ||
| ENST00000552161.6:n.2511G>T | ||
| ENST00000672797.1:n.1922G>T | ||
| ENST00000209873.8:c.1433G>T | ENSP00000209873.4:p.Arg478Leu | |
| ENST00000394384.7:c.1334G>T | ENSP00000377908.3:p.Arg445Leu | |
| ENST00000548931.5:c.868G>T | ENSP00000457518.1:p.Glu290Ter | |
| ENST00000550286.5:c.1061G>T | ENSP00000446885.1:p.Arg354Leu | |
| ENST00000552876.5:n.1776G>T | ||
| NM_001173466.1:c.1334G>T | NP_001166937.1:p.Arg445Leu | |
| NM_015665.5:c.1433G>T | NP_056480.1:p.Arg478Leu | |
| XM_006719617.2:c.1448G>T | XP_006719680.1:p.Arg483Leu | |
| XM_011538777.1:c.1490G>T | XP_011537079.1:p.Arg497Leu | |
| XM_011538778.1:c.1475G>T | XP_011537080.1:p.Arg492Leu | |
| XM_011538779.1:c.1391G>T | XP_011537081.1:p.Arg464Leu | |
| XM_011538780.1:c.1376G>T | XP_011537082.1:p.Arg459Leu | |
| XM_011538781.1:c.824G>T | XP_011537083.1:p.Arg275Leu | |
| XM_011538778.2:c.1475G>T | XP_011537080.1:p.Arg492Leu | |
| XM_011538780.2:c.1376G>T | XP_011537082.1:p.Arg459Leu | |
| XR_001748875.2:n.1490G>T | ||
| NM_015665.6:c.1433G>T MANE Select | NP_056480.1:p.Arg478Leu | |
| NM_001173466.2:c.1334G>T | NP_001166937.1:p.Arg445Leu |