Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.108267195T>A , CM000675.2:g.108267195T>A | GRCh38 |
| NC_000013.10:g.108919543T>A , CM000675.1:g.108919543T>A | GRCh37 |
| NC_000013.9:g.107717544T>A | NCBI36 |
| NG_029524.1:g.2567T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000486502.1:n.78-2905T>A | |
| XR_931715.1:n.1830T>A |