Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403569A>G , CM000673.2:g.130403569A>G | GRCh38 |
| NC_000011.9:g.130273464A>G , CM000673.1:g.130273464A>G | GRCh37 |
| NC_000011.8:g.129778674A>G | NCBI36 |
| NG_052870.1:g.30425T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2664A>G | ||
| XR_948178.1:n.2318A>G | ||
| XR_948179.1:n.2236A>G | ||
| XR_948180.1:n.2236A>G | ||
| XR_948181.1:n.805A>G | ||
| XR_948182.1:n.2396A>G | ||
| XR_948183.1:n.458+9770A>G | ||
| XR_948184.1:n.727A>G | ||
| XR_948185.1:n.656A>G | ||
| XR_948187.1:n.458+9770A>G | ||
| XR_948188.1:n.559A>G | ||
| XR_948189.1:n.607A>G | ||
| NR_148980.1:n.880A>G |