| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.15703161G>A , CM000669.2:g.15703161G>A | GRCh38 |
| NC_000007.13:g.15742786G>A , CM000669.1:g.15742786G>A | GRCh37 |
| NC_000007.12:g.15709311G>A | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| XR_001745101.1:n.704+375G>A | |
| XR_927057.1:n.450+375G>A | |
| XR_927057.2:n.704+375G>A |