Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.36088183T>G , CM000679.2:g.36088183T>G | GRCh38 |
| NC_000017.10:g.34415529T>G , CM000679.1:g.34415529T>G | GRCh37 |
| NC_000017.9:g.31439642T>G | NCBI36 |
| NG_027730.1:g.6978A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001752857.1:n.1637-1363T>G | ||
| XR_001752858.1:n.673-1363T>G | ||
| XR_001752859.1:n.1584-1363T>G |