Linked Data
dbSNP Id:
rs1304951872
gnomAD v2:
12-53045788-C-A
gnomAD v3:
12-52652004-C-A
gnomAD v4:
12-52652004-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52652004C>A , CM000674.2:g.52652004C>A | GRCh38 |
| NC_000012.11:g.53045788C>A , CM000674.1:g.53045788C>A | GRCh37 |
| NC_000012.10:g.51332055C>A | NCBI36 |
| NG_008296.1:g.5172G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.139G>T MANE Select | ENSP00000310861.3:p.Gly47Cys | |
| ENST00000309680.3:c.139G>T | ENSP00000310861.3:p.Gly47Cys | |
| NM_000423.2:c.139G>T | NP_000414.2:p.Gly47Cys | |
| NM_000423.3:c.139G>T MANE Select | NP_000414.2:p.Gly47Cys |