Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403486G>A , CM000673.2:g.130403486G>A | GRCh38 |
| NC_000011.9:g.130273381G>A , CM000673.1:g.130273381G>A | GRCh37 |
| NC_000011.8:g.129778591G>A | NCBI36 |
| NG_052870.1:g.30508C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2581G>A | ||
| XR_948178.1:n.2235G>A | ||
| XR_948179.1:n.2153G>A | ||
| XR_948180.1:n.2153G>A | ||
| XR_948181.1:n.722G>A | ||
| XR_948182.1:n.2313G>A | ||
| XR_948183.1:n.458+9687G>A | ||
| XR_948184.1:n.644G>A | ||
| XR_948185.1:n.573G>A | ||
| XR_948187.1:n.458+9687G>A | ||
| XR_948188.1:n.476G>A | ||
| XR_948189.1:n.524G>A | ||
| NR_148980.1:n.797G>A |