Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403155T>A , CM000673.2:g.130403155T>A | GRCh38 |
| NC_000011.9:g.130273050T>A , CM000673.1:g.130273050T>A | GRCh37 |
| NC_000011.8:g.129778260T>A | NCBI36 |
| NG_052870.1:g.30839A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2250T>A | ||
| XR_948178.1:n.1904T>A | ||
| XR_948179.1:n.1822T>A | ||
| XR_948180.1:n.1822T>A | ||
| XR_948181.1:n.537-146T>A | ||
| XR_948182.1:n.1982T>A | ||
| XR_948183.1:n.458+9356T>A | ||
| XR_948184.1:n.459-146T>A | ||
| XR_948185.1:n.388-146T>A | ||
| XR_948187.1:n.458+9356T>A | ||
| XR_948188.1:n.291-146T>A | ||
| XR_948189.1:n.339-146T>A | ||
| NR_148980.1:n.612-146T>A |