Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.9189547G>A , CM000663.2:g.9189547G>A | GRCh38 |
| NC_000001.10:g.9249606G>A , CM000663.1:g.9249606G>A | GRCh37 |
| NC_000001.9:g.9172193G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_132738.1:n.289-1846G>A | ||
| XR_946941.1:n.685-1493G>A | ||
| XR_946942.1:n.685-1846G>A | ||
| XR_946943.1:n.1071-1493G>A | ||
| XR_946944.1:n.865-1846G>A | ||
| XR_946945.1:n.719-1846G>A | ||
| XR_946946.1:n.938+1758G>A | ||
| XR_946947.1:n.607-1493G>A | ||
| XR_946948.1:n.595-1493G>A |