| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.56616470G>A , CM000664.2:g.56616470G>A | GRCh38 |
| NC_000002.11:g.56843605G>A , CM000664.1:g.56843605G>A | GRCh37 |
| NC_000002.10:g.56697109G>A | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| XR_001739478.1:n.288+22797G>A | |
| XR_001739479.1:n.288+22797G>A | |
| XR_001739480.1:n.329+22797G>A |