| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31297713T>A , CM000668.2:g.31297713T>A | GRCh38 |
| NC_000006.11:g.31265490T>A , CM000668.1:g.31265490T>A | GRCh37 |
| NC_000006.10:g.31373469T>A | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| NR_149115.1:n.167-2700A>T | |
| XR_926691.1:n.1909A>T | |
| XR_926691.2:n.1925A>T |