| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.75826838C>T , CM000674.2:g.75826838C>T | GRCh38 |
| NC_000012.11:g.76220618C>T , CM000674.1:g.76220618C>T | GRCh37 |
| NC_000012.10:g.74506885C>T | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| XR_001749214.2:n.379-131863G>A | |
| XR_002957419.1:n.379-131863G>A |