| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50109033A>G , CM000678.2:g.50109033A>G | GRCh38 |
| NC_000016.9:g.50142944A>G , CM000678.1:g.50142944A>G | GRCh37 |
| NC_000016.8:g.48700445A>G | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| XM_011523490.1:c.115-2381T>C | XP_011521792.1:n.115-2381T>C |