| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.624528G>C , CM000686.2:g.624528G>C | GRCh38 |
| NC_000024.9:g.535263G>C , CM000686.1:g.535263G>C | GRCh37 |
| NC_000024.8:g.505263G>C | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000711143.1:c.-507G>C | ENSP00000518641.1:n.-507G>C |
| ENST00000711145.1:c.-507G>C | ENSP00000518642.1:n.-507G>C |