Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122050554C>A , CM000665.2:g.122050554C>A | GRCh38 |
| NC_000003.11:g.121769401C>A , CM000665.1:g.121769401C>A | GRCh37 |
| NC_000003.10:g.123252091C>A | NCBI36 |
| NG_029928.1:g.193C>A | |
| NG_031870.2:g.15001G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011512739.1:c.-348+9866G>T | XP_011511041.1:n.-348+9866G>T | |
| XM_011512739.2:c.-348+9866G>T | XP_011511041.1:n.-348+9866G>T |