Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122050675T>C , CM000665.2:g.122050675T>C | GRCh38 |
| NC_000003.11:g.121769522T>C , CM000665.1:g.121769522T>C | GRCh37 |
| NC_000003.10:g.123252212T>C | NCBI36 |
| NG_029928.1:g.314T>C | |
| NG_031870.2:g.14880A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011512739.1:c.-348+9745A>G | XP_011511041.1:n.-348+9745A>G |
| XM_011512739.2:c.-348+9745A>G | XP_011511041.1:n.-348+9745A>G |