| HGVS | Genome Assembly |
|---|---|
| NT_187661.1:g.252354C>T , KI270909.1:g.252354C>T | |
| NC_000017.10:g.34625619C>T , CM000679.1:g.34625619C>T | GRCh37 |
| NC_000017.9:g.31649732C>T | NCBI36 |
| NG_023369.1:g.5112G>A |
| HGVS | Amino-acid Change |
|---|---|
| NM_021006.5:c.28G>A | NP_066286.1:p.Val10Ile |
| NR_111964.1:n.113G>A |