Linked Data
ClinVar Variation Id:
5040
dbSNP Id:
rs121918548
ExAC:
12:53701482 G / A
gnomAD v2:
12-53701482-G-A
gnomAD v3:
12-53307698-G-A
gnomAD v4:
12-53307698-G-A
COSMIC:
COSM5900781
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307698G>A , CM000674.2:g.53307698G>A | GRCh38 |
| NC_000012.11:g.53701482G>A , CM000674.1:g.53701482G>A | GRCh37 |
| NC_000012.10:g.51987749G>A | NCBI36 |
| NG_016775.1:g.18931C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1432C>T MANE Select | ENSP00000209873.4:p.Arg478Ter | |
| ENST00000546562.6:n.2496C>T | ||
| ENST00000547238.6:n.2068C>T | ||
| ENST00000547520.6:n.1548C>T | ||
| ENST00000547757.2:c.*350C>T | ENSP00000448020.2:n.*350C>T | |
| ENST00000548880.2:n.1882C>T | ||
| ENST00000548931.6:c.867C>T | ENSP00000457518.1:p.Ala289= | |
| ENST00000549450.6:n.1366C>T | ||
| ENST00000552161.6:n.2510C>T | ||
| ENST00000672797.1:n.1921C>T | ||
| ENST00000209873.8:c.1432C>T | ENSP00000209873.4:p.Arg478Ter | |
| ENST00000394384.7:c.1333C>T | ENSP00000377908.3:p.Arg445Ter | |
| ENST00000548931.5:c.867C>T | ENSP00000457518.1:p.Ala289= | |
| ENST00000550286.5:c.1060C>T | ENSP00000446885.1:p.Arg354Ter | |
| ENST00000552876.5:n.1775C>T | ||
| NM_001173466.1:c.1333C>T | NP_001166937.1:p.Arg445Ter | |
| NM_015665.5:c.1432C>T | NP_056480.1:p.Arg478Ter | |
| XM_006719617.2:c.1447C>T | XP_006719680.1:p.Arg483Ter | |
| XM_011538777.1:c.1489C>T | XP_011537079.1:p.Arg497Ter | |
| XM_011538778.1:c.1474C>T | XP_011537080.1:p.Arg492Ter | |
| XM_011538779.1:c.1390C>T | XP_011537081.1:p.Arg464Ter | |
| XM_011538780.1:c.1375C>T | XP_011537082.1:p.Arg459Ter | |
| XM_011538781.1:c.823C>T | XP_011537083.1:p.Arg275Ter | |
| XM_011538778.2:c.1474C>T | XP_011537080.1:p.Arg492Ter | |
| XM_011538780.2:c.1375C>T | XP_011537082.1:p.Arg459Ter | |
| XR_001748875.2:n.1489C>T | ||
| NM_015665.6:c.1432C>T MANE Select | NP_056480.1:p.Arg478Ter | |
| NM_001173466.2:c.1333C>T | NP_001166937.1:p.Arg445Ter |