| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30897563T>A , CM000669.2:g.30897563T>A | GRCh38 |
| NC_000007.13:g.30937178T>A , CM000669.1:g.30937178T>A | GRCh37 |
| NC_000007.12:g.30903703T>A | NCBI36 |
| NG_007475.2:g.49170T>A |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000509504.2:c.622-14430T>A |