Linked Data
dbSNP Id:
rs772312741
ExAC:
17:76219719 G / T
gnomAD v2:
17-76219719-G-T
gnomAD v4:
17-78223638-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78223638G>T , CM000679.2:g.78223638G>T | GRCh38 |
| NC_000017.10:g.76219719G>T , CM000679.1:g.76219719G>T | GRCh37 |
| NC_000017.9:g.73731314G>T | NCBI36 |
| NG_029069.1:g.14443G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350051.8:c.*84G>T MANE Select | ENSP00000324180.4:n.*84G>T | |
| ENST00000301633.8:c.*84G>T | ENSP00000301633.3:n.*84G>T | |
| ENST00000350051.7:c.*84G>T | ENSP00000324180.4:n.*84G>T | |
| ENST00000374948.6:c.395G>T | ENSP00000364086.1:p.Gly132Val | |
| ENST00000589892.1:n.529G>T | ||
| NM_001012270.1:c.395G>T | NP_001012270.1:p.Gly132Val | |
| NM_001012271.1:c.*84G>T | NP_001012271.1:n.*84G>T | |
| NM_001168.2:c.*84G>T | NP_001159.2:n.*84G>T | |
| XR_243654.3:n.715G>T | ||
| XR_934452.1:n.784G>T | ||
| XR_243654.5:n.715G>T | ||
| XR_934452.3:n.784G>T | ||
| NM_001168.3:c.*84G>T MANE Select | NP_001159.2:n.*84G>T | |
| NM_001012270.2:c.395G>T | NP_001012270.1:p.Gly132Val | |
| NM_001012271.2:c.*84G>T | NP_001012271.1:n.*84G>T |