| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35165459T>C , CM000682.2:g.35165459T>C | GRCh38 |
| NC_000020.10:g.33753262T>C , CM000682.1:g.33753262T>C | GRCh37 |
| NC_000020.9:g.33216923T>C | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| NM_001355008.1:c.-17+328A>G | NP_001341937.1:n.-17+328A>G |
| NM_001355008.2:c.-17+328A>G | NP_001341937.1:n.-17+328A>G |