Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122050649A>T , CM000665.2:g.122050649A>T | GRCh38 |
| NC_000003.11:g.121769496A>T , CM000665.1:g.121769496A>T | GRCh37 |
| NC_000003.10:g.123252186A>T | NCBI36 |
| NG_029928.1:g.288A>T | |
| NG_031870.2:g.14906T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011512739.1:c.-348+9771T>A | XP_011511041.1:n.-348+9771T>A | |
| XM_011512739.2:c.-348+9771T>A | XP_011511041.1:n.-348+9771T>A |