Linked Data
ClinVar Variation Id:
2462715
ClinVar RCV Id:
RCV004257633
dbSNP Id:
rs375947077
ExAC:
17:76219603 C / T
gnomAD v2:
17-76219603-C-T
gnomAD v3:
17-78223522-C-T
gnomAD v4:
17-78223522-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78223522C>T , CM000679.2:g.78223522C>T | GRCh38 |
| NC_000017.10:g.76219603C>T , CM000679.1:g.76219603C>T | GRCh37 |
| NC_000017.9:g.73731198C>T | NCBI36 |
| NG_029069.1:g.14327C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350051.8:c.397C>T MANE Select | ENSP00000324180.4:p.Arg133Cys | |
| ENST00000301633.8:c.466C>T | ENSP00000301633.3:p.Arg156Cys | |
| ENST00000350051.7:c.397C>T | ENSP00000324180.4:p.Arg133Cys | |
| ENST00000374948.6:c.279C>T | ENSP00000364086.1:p.Ala93= | |
| ENST00000589892.1:n.413C>T | ||
| ENST00000590925.6:c.*199C>T | ENSP00000467336.1:n.*199C>T | |
| NM_001012270.1:c.279C>T | NP_001012270.1:p.Ala93= | |
| NM_001012271.1:c.466C>T | NP_001012271.1:p.Arg156Cys | |
| NM_001168.2:c.397C>T | NP_001159.2:p.Arg133Cys | |
| XR_243654.3:n.599C>T | ||
| XR_934452.1:n.668C>T | ||
| XR_243654.5:n.599C>T | ||
| XR_934452.3:n.668C>T | ||
| NM_001168.3:c.397C>T MANE Select | NP_001159.2:p.Arg133Cys | |
| NM_001012270.2:c.279C>T | NP_001012270.1:p.Ala93= | |
| NM_001012271.2:c.466C>T | NP_001012271.1:p.Arg156Cys |