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