| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.118080834A>C , CM000664.2:g.118080834A>C | GRCh38 |
| NC_000002.11:g.118838410A>C , CM000664.1:g.118838410A>C | GRCh37 |
| NC_000002.10:g.118554880A>C | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| XM_011512305.1:c.697-3302T>G | XP_011510607.1:n.697-3302T>G |
| XR_001739662.2:n.138+7417T>G |