Linked Data
ClinVar Variation Id:
2713121
ClinVar RCV Id:
RCV003582467
dbSNP Id:
rs201685069
ExAC:
11:118037748 C / A
gnomAD v2:
11-118037748-C-A
gnomAD v3:
11-118167033-C-A
gnomAD v4:
11-118167033-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118167033C>A , CM000673.2:g.118167033C>A | GRCh38 |
| NC_000011.9:g.118037748C>A , CM000673.1:g.118037748C>A | GRCh37 |
| NC_000011.8:g.117542958C>A | NCBI36 |
| NG_042217.1:g.14590G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278947.6:c.502G>T MANE Select | ENSP00000278947.5:p.Gly168Cys | |
| ENST00000658882.1:c.*327G>T | ENSP00000499572.1:n.*327G>T | |
| ENST00000669850.1:n.744G>T | ||
| ENST00000278947.5:c.502G>T | ENSP00000278947.5:p.Gly168Cys | |
| NM_004588.4:c.502G>T | NP_004579.1:p.Gly168Cys | |
| NM_004588.5:c.502G>T MANE Select | NP_004579.1:p.Gly168Cys |