| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4307138A>G , CM000674.2:g.4307138A>G | GRCh38 |
| NC_000012.11:g.4416304A>G , CM000674.1:g.4416304A>G | GRCh37 |
| NC_000012.10:g.4286565A>G | NCBI36 |
| NG_034254.1:g.38403A>G |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000648100.1:c.720+18148A>G | ENSP00000497536.1:n.720+18148A>G |
| ENST00000674624.1:c.720+18148A>G | ENSP00000501898.1:n.720+18148A>G |