| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.70475178G>A , CM000680.2:g.70475178G>A | GRCh38 |
| NC_000018.9:g.68142414G>A , CM000680.1:g.68142414G>A | GRCh37 |
| NC_000018.8:g.66293394G>A | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| XR_001753496.1:n.258+10139G>A | |
| XR_935606.1:n.190+4815G>A | |
| XR_935606.2:n.456+4815G>A | |
| XR_935607.1:n.190+4815G>A |