Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.36088247C= , CM000679.2:g.36088247C= | GRCh38 |
| NC_000017.10:g.34415593C= , CM000679.1:g.34415593C= | GRCh37 |
| NC_000017.9:g.31439706C= | NCBI36 |
| NG_027730.1:g.6914G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001752857.1:n.1637-1299C= | ||
| XR_001752858.1:n.673-1299C= | ||
| XR_001752859.1:n.1584-1299C= |