Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403138C>G , CM000673.2:g.130403138C>G | GRCh38 |
| NC_000011.9:g.130273033C>G , CM000673.1:g.130273033C>G | GRCh37 |
| NC_000011.8:g.129778243C>G | NCBI36 |
| NG_052870.1:g.30856G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2233C>G | ||
| XR_948178.1:n.1887C>G | ||
| XR_948179.1:n.1805C>G | ||
| XR_948180.1:n.1805C>G | ||
| XR_948181.1:n.537-163C>G | ||
| XR_948182.1:n.1965C>G | ||
| XR_948183.1:n.458+9339C>G | ||
| XR_948184.1:n.459-163C>G | ||
| XR_948185.1:n.388-163C>G | ||
| XR_948187.1:n.458+9339C>G | ||
| XR_948188.1:n.291-163C>G | ||
| XR_948189.1:n.339-163C>G | ||
| NR_148980.1:n.612-163C>G |