Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.59705618C>A , CM000665.2:g.59705618C>A | GRCh38 |
| NC_000003.11:g.59691344C>A , CM000665.1:g.59691344C>A | GRCh37 |
| NC_000003.10:g.59666384C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_002959675.1:n.1218-104114C>A |