Linked Data
ClinVar Variation Id:
446083
dbSNP Id:
rs61758444
ExAC:
8:105405032 G / A
gnomAD v2:
8-105405032-G-A
gnomAD v3:
8-104392804-G-A
gnomAD v4:
8-104392804-G-A
COSMIC:
COSM3884523
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.104392804G>A , CM000670.2:g.104392804G>A | GRCh38 |
| NC_000008.10:g.105405032G>A , CM000670.1:g.105405032G>A | GRCh37 |
| NC_000008.9:g.105474208G>A | NCBI36 |
| NG_008840.1:g.79246C>T | |
| NG_008840.2:g.79246C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351513.7:c.1423C>T MANE Select | ENSP00000276651.2:p.Arg475Ter | |
| ENST00000351513.6:c.1423C>T | ENSP00000276651.2:p.Arg475Ter | |
| ENST00000520483.5:n.327C>T | ||
| ENST00000521372.1:n.255C>T | ||
| ENST00000521601.1:n.198-11490C>T | ||
| ENST00000533874.1:c.53C>T | ||
| NM_001385.2:c.1423C>T | NP_001376.1:p.Arg475Ter | |
| XM_005250818.2:c.1531C>T | XP_005250875.1:p.Arg511Ter | |
| XM_006716518.2:c.1372C>T | XP_006716581.1:p.Arg458Ter | |
| XM_011516903.1:c.1531C>T | XP_011515205.1:p.Arg511Ter | |
| XM_005250818.3:c.1531C>T | XP_005250875.1:p.Arg511Ter | |
| XM_006716518.3:c.1372C>T | XP_006716581.1:p.Arg458Ter | |
| XM_011516903.3:c.1531C>T | XP_011515205.1:p.Arg511Ter | |
| XM_024447087.1:c.1531C>T | XP_024302855.1:p.Arg511Ter | |
| XR_001745489.1:n.2022C>T | ||
| XR_001745490.2:n.1914C>T | ||
| NM_001385.3:c.1423C>T MANE Select | NP_001376.1:p.Arg475Ter |