| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.118078265G>A , CM000664.2:g.118078265G>A | GRCh38 |
| NC_000002.11:g.118835841G>A , CM000664.1:g.118835841G>A | GRCh37 |
| NC_000002.10:g.118552311G>A | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| XM_011512305.1:c.697-733C>T | XP_011510607.1:n.697-733C>T |
| XR_001739662.2:n.138+9986C>T |