Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169681903G>A , CM000663.2:g.169681903G>A | GRCh38 |
| NC_000001.10:g.169651044G>A , CM000663.1:g.169651044G>A | GRCh37 |
| NC_000001.9:g.167917668G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000498289.5:n.518-1566G>A | |
| XR_001738282.1:n.274-1489G>A |