| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.13781600C>A , CM000679.2:g.13781600C>A | GRCh38 |
| NC_000017.10:g.13684917C>A , CM000679.1:g.13684917C>A | GRCh37 |
| NC_000017.9:g.13625642C>A | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| XR_934240.1:n.375-3573G>T | |
| XR_934241.1:n.375-4251G>T | |
| XR_934242.1:n.188-4251G>T |