| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.21483408C>G , CM000681.2:g.21483408C>G | GRCh38 |
| NC_000019.9:g.21666210C>G , CM000681.1:g.21666210C>G | GRCh37 |
| NC_000019.8:g.21458050C>G | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000600810.1:c.197-6257C>G | ENSP00000473166.1:n.197-6257C>G |