dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.125594988G>T , CM000665.2:g.125594988G>T | GRCh38 |
| NC_000003.11:g.125313832G>T , CM000665.1:g.125313832G>T | GRCh37 |
| NC_000003.10:g.126796522G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296220.6:c.-188C>A MANE Select | ENSP00000296220.5:n.-188C>A | |
| ENST00000296220.5:c.-188C>A | ENSP00000296220.5:n.-188C>A | |
| NM_022776.4:c.-188C>A | NP_073613.2:n.-188C>A | |
| XM_011512384.1:c.-188C>A | XP_011510686.1:n.-188C>A | |
| XR_001739992.2:n.136C>A | ||
| NM_022776.5:c.-188C>A MANE Select | NP_073613.2:n.-188C>A |