| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.28544649T>C , CM000681.2:g.28544649T>C | GRCh38 |
| NC_000019.9:g.29035556T>C , CM000681.1:g.29035556T>C | GRCh37 |
| NC_000019.8:g.33727396T>C | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| NR_110759.1:n.657-77869A>G | |
| XR_243979.1:n.110-51626A>G |