| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762611C>A , CM000672.2:g.94762611C>A | GRCh38 |
| NC_000010.10:g.96522368C>A , CM000672.1:g.96522368C>A | GRCh37 |
| NC_000010.9:g.96512358C>A | NCBI36 |
| NG_008384.2:g.4906C>A | |
| NG_008384.3:g.4931C>A |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000464755.1:c.932-12447C>A | ENSP00000483243.1:n.932-12447C>A |