| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192567683C>T , CM000663.2:g.192567683C>T | GRCh38 |
| NC_000001.10:g.192536813C>T , CM000663.1:g.192536813C>T | GRCh37 |
| NC_000001.9:g.190803436C>T | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| XR_002958418.1:n.288-467G>A | |
| XR_922382.1:n.267-467G>A |