| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.54434432G>A , CM000664.2:g.54434432G>A | GRCh38 |
| NC_000002.11:g.54661569G>A , CM000664.1:g.54661569G>A | GRCh37 |
| NC_000002.10:g.54515073G>A | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| XR_001739475.1:n.1266+452G>A | |
| XR_940094.1:n.36+452G>A | |
| XR_940094.2:n.39+452G>A | |
| XR_940095.1:n.36+452G>A |