Linked Data
dbSNP Id:
rs1383978350
gnomAD v2:
17-76219766-A-T
gnomAD v3:
17-78223685-A-T
gnomAD v4:
17-78223685-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78223685A>T , CM000679.2:g.78223685A>T | GRCh38 |
| NC_000017.10:g.76219766A>T , CM000679.1:g.76219766A>T | GRCh37 |
| NC_000017.9:g.73731361A>T | NCBI36 |
| NG_029069.1:g.14490A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350051.8:c.*131A>T MANE Select | ENSP00000324180.4:n.*131A>T | |
| ENST00000301633.8:c.*131A>T | ENSP00000301633.3:n.*131A>T | |
| ENST00000350051.7:c.*131A>T | ENSP00000324180.4:n.*131A>T | |
| ENST00000374948.6:c.*28A>T | ENSP00000364086.1:n.*28A>T | |
| ENST00000589892.1:n.576A>T | ||
| NM_001012270.1:c.*28A>T | NP_001012270.1:n.*28A>T | |
| NM_001012271.1:c.*131A>T | NP_001012271.1:n.*131A>T | |
| NM_001168.2:c.*131A>T | NP_001159.2:n.*131A>T | |
| XR_243654.3:n.762A>T | ||
| XR_934452.1:n.831A>T | ||
| XR_243654.5:n.762A>T | ||
| XR_934452.3:n.831A>T | ||
| NM_001168.3:c.*131A>T MANE Select | NP_001159.2:n.*131A>T | |
| NM_001012270.2:c.*28A>T | NP_001012270.1:n.*28A>T | |
| NM_001012271.2:c.*131A>T | NP_001012271.1:n.*131A>T |