| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.84170289G>A , CM000674.2:g.84170289G>A | GRCh38 |
| NC_000012.11:g.84564068G>A , CM000674.1:g.84564068G>A | GRCh37 |
| NC_000012.10:g.83088199G>A | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| XR_001749234.1:n.127+16177C>T | |
| XR_001749235.1:n.127+16177C>T |