| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.624523C= , CM000686.2:g.624523C= | GRCh38 |
| NC_000024.9:g.535258C= , CM000686.1:g.535258C= | GRCh37 |
| NC_000024.8:g.505258C= | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000711143.1:c.-512C= | ENSP00000518641.1:n.-512C= |
| ENST00000711145.1:c.-512C= | ENSP00000518642.1:n.-512C= |