Linked Data
ClinVar Variation Id:
409668
dbSNP Id:
rs748402153
ExAC:
12:57963916 C / T
gnomAD v2:
12-57963916-C-T
gnomAD v3:
12-57570133-C-T
gnomAD v4:
12-57570133-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57570133C>T , CM000674.2:g.57570133C>T | GRCh38 |
| NC_000012.11:g.57963916C>T , CM000674.1:g.57963916C>T | GRCh37 |
| NC_000012.10:g.56250183C>T | NCBI36 |
| NG_008155.1:g.25070C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.1264C>T MANE Select | ENSP00000408979.2:p.Arg422Cys | |
| ENST00000674619.1:c.1264C>T | ENSP00000502270.1:p.Arg422Cys | |
| ENST00000675882.1:n.251C>T | ||
| ENST00000676081.1:n.410C>T | ||
| ENST00000676457.1:c.1159C>T | ENSP00000501588.1:p.Arg387Cys | |
| ENST00000286452.5:c.997C>T | ENSP00000286452.5:p.Arg333Cys | |
| ENST00000455537.6:c.1264C>T | ENSP00000408979.2:p.Arg422Cys | |
| NM_004984.2:c.1264C>T | NP_004975.2:p.Arg422Cys | |
| NM_001354705.1:c.997C>T | NP_001341634.1:p.Arg333Cys | |
| NM_004984.3:c.1264C>T | NP_004975.2:p.Arg422Cys | |
| XR_002957324.1:n.1497C>T | ||
| NM_004984.4:c.1264C>T MANE Select | NP_004975.2:p.Arg422Cys | |
| NM_001354705.2:c.997C>T | NP_001341634.1:p.Arg333Cys |