Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403366A>C , CM000673.2:g.130403366A>C | GRCh38 |
| NC_000011.9:g.130273261A>C , CM000673.1:g.130273261A>C | GRCh37 |
| NC_000011.8:g.129778471A>C | NCBI36 |
| NG_052870.1:g.30628T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2461A>C | ||
| XR_948178.1:n.2115A>C | ||
| XR_948179.1:n.2033A>C | ||
| XR_948180.1:n.2033A>C | ||
| XR_948181.1:n.602A>C | ||
| XR_948182.1:n.2193A>C | ||
| XR_948183.1:n.458+9567A>C | ||
| XR_948184.1:n.524A>C | ||
| XR_948185.1:n.453A>C | ||
| XR_948187.1:n.458+9567A>C | ||
| XR_948188.1:n.356A>C | ||
| XR_948189.1:n.404A>C | ||
| NR_148980.1:n.677A>C |