| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46193709C>G , CM000665.2:g.46193709C>G | GRCh38 |
| NC_000003.11:g.46235201C>G , CM000665.1:g.46235201C>G | GRCh37 |
| NC_000003.10:g.46210205C>G | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000357422.2:c.-284-16982C>G | ENSP00000350003.2:n.-284-16982C>G |