Linked Data
dbSNP Id:
rs373086357
ExAC:
17:76219681 C / A
gnomAD v2:
17-76219681-C-A
gnomAD v3:
17-78223600-C-A
gnomAD v4:
17-78223600-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78223600C>A , CM000679.2:g.78223600C>A | GRCh38 |
| NC_000017.10:g.76219681C>A , CM000679.1:g.76219681C>A | GRCh37 |
| NC_000017.9:g.73731276C>A | NCBI36 |
| NG_029069.1:g.14405C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350051.8:c.*46C>A MANE Select | ENSP00000324180.4:n.*46C>A | |
| ENST00000301633.8:c.*46C>A | ENSP00000301633.3:n.*46C>A | |
| ENST00000350051.7:c.*46C>A | ENSP00000324180.4:n.*46C>A | |
| ENST00000374948.6:c.357C>A | ENSP00000364086.1:p.Phe119Leu | |
| ENST00000589892.1:n.491C>A | ||
| NM_001012270.1:c.357C>A | NP_001012270.1:p.Phe119Leu | |
| NM_001012271.1:c.*46C>A | NP_001012271.1:n.*46C>A | |
| NM_001168.2:c.*46C>A | NP_001159.2:n.*46C>A | |
| XR_243654.3:n.677C>A | ||
| XR_934452.1:n.746C>A | ||
| XR_243654.5:n.677C>A | ||
| XR_934452.3:n.746C>A | ||
| NM_001168.3:c.*46C>A MANE Select | NP_001159.2:n.*46C>A | |
| NM_001012270.2:c.357C>A | NP_001012270.1:p.Phe119Leu | |
| NM_001012271.2:c.*46C>A | NP_001012271.1:n.*46C>A |