| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53876444C>A , CM000674.2:g.53876444C>A | GRCh38 |
| NC_000012.11:g.54270228C>A , CM000674.1:g.54270228C>A | GRCh37 |
| NC_000012.10:g.52556495C>A | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| XR_001749153.1:n.375+1196C>A | |
| XR_001749154.1:n.545+1196C>A | |
| XR_002957415.1:n.452-19753C>A |