Linked Data
ClinVar Variation Id:
1055687
ClinVar RCV Id:
RCV001364399
dbSNP Id:
rs1451283997
gnomAD v2:
11-68549408-G-A
gnomAD v4:
11-68781940-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68781940G>A , CM000673.2:g.68781940G>A | GRCh38 |
| NC_000011.9:g.68549408G>A , CM000673.1:g.68549408G>A | GRCh37 |
| NC_000011.8:g.68305984G>A | NCBI36 |
| NG_011801.1:g.64992C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265641.10:c.1183C>T MANE Select | ENSP00000265641.4:p.Arg395Cys | |
| ENST00000265641.9:c.1183C>T | ENSP00000265641.4:p.Arg395Cys | |
| ENST00000376618.6:c.1183C>T | ENSP00000365803.2:p.Arg395Cys | |
| ENST00000539743.5:c.1183C>T | ENSP00000446108.1:p.Arg395Cys | |
| ENST00000540367.5:c.1183C>T | ENSP00000439084.1:p.Arg395Cys | |
| NM_001031847.2:c.1183C>T | NP_001027017.1:p.Arg395Cys | |
| NM_001876.3:c.1183C>T | NP_001867.2:p.Arg395Cys | |
| XM_005273762.1:c.1279C>T | XP_005273819.1:p.Arg427Cys | |
| XM_005273763.1:c.1279C>T | XP_005273820.1:p.Arg427Cys | |
| XM_005273762.3:c.1279C>T | XP_005273819.1:p.Arg427Cys | |
| XM_017017220.1:c.1183C>T | XP_016872709.1:p.Arg395Cys | |
| NM_001876.4:c.1183C>T MANE Select | NP_001867.2:p.Arg395Cys | |
| NM_001031847.3:c.1183C>T | NP_001027017.1:p.Arg395Cys |