Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122050546C>T , CM000665.2:g.122050546C>T | GRCh38 |
| NC_000003.11:g.121769393C>T , CM000665.1:g.121769393C>T | GRCh37 |
| NC_000003.10:g.123252083C>T | NCBI36 |
| NG_029928.1:g.185C>T | |
| NG_031870.2:g.15009G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011512739.1:c.-348+9874G>A | XP_011511041.1:n.-348+9874G>A | |
| XM_011512739.2:c.-348+9874G>A | XP_011511041.1:n.-348+9874G>A |