Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.13316172G>A , CM000682.2:g.13316172G>A | GRCh38 |
| NC_000020.10:g.13296819G>A , CM000682.1:g.13296819G>A | GRCh37 |
| NC_000020.9:g.13244819G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_937280.1:n.601-117C>T | ||
| XM_017027680.1:c.878-8894G>A (ISM1) | XP_016883169.1:n.878-8894G>A | |
| XR_001754319.2:n.1282-117C>T (TASP1) |