Linked Data
dbSNP Id:
rs138842857
ExAC:
17:76219590 G / A
gnomAD v2:
17-76219590-G-A
gnomAD v3:
17-78223509-G-A
gnomAD v4:
17-78223509-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78223509G>A , CM000679.2:g.78223509G>A | GRCh38 |
| NC_000017.10:g.76219590G>A , CM000679.1:g.76219590G>A | GRCh37 |
| NC_000017.9:g.73731185G>A | NCBI36 |
| NG_029069.1:g.14314G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350051.8:c.384G>A MANE Select | ENSP00000324180.4:p.Ala128= | |
| ENST00000301633.8:c.453G>A | ENSP00000301633.3:p.Ala151= | |
| ENST00000350051.7:c.384G>A | ENSP00000324180.4:p.Ala128= | |
| ENST00000374948.6:c.266G>A | ENSP00000364086.1:p.Arg89Gln | |
| ENST00000589892.1:n.400G>A | ||
| ENST00000590925.6:c.*186G>A | ENSP00000467336.1:n.*186G>A | |
| NM_001012270.1:c.266G>A | NP_001012270.1:p.Arg89Gln | |
| NM_001012271.1:c.453G>A | NP_001012271.1:p.Ala151= | |
| NM_001168.2:c.384G>A | NP_001159.2:p.Ala128= | |
| XR_243654.3:n.586G>A | ||
| XR_934452.1:n.655G>A | ||
| XR_243654.5:n.586G>A | ||
| XR_934452.3:n.655G>A | ||
| NM_001168.3:c.384G>A MANE Select | NP_001159.2:p.Ala128= | |
| NM_001012270.2:c.266G>A | NP_001012270.1:p.Arg89Gln | |
| NM_001012271.2:c.453G>A | NP_001012271.1:p.Ala151= |