Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.13316232A>C , CM000682.2:g.13316232A>C | GRCh38 |
| NC_000020.10:g.13296879A>C , CM000682.1:g.13296879A>C | GRCh37 |
| NC_000020.9:g.13244879A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_937280.1:n.601-177T>G | ||
| XM_017027680.1:c.878-8834A>C (ISM1) | XP_016883169.1:n.878-8834A>C | |
| XR_001754319.2:n.1282-177T>G (TASP1) |