Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403031T>A , CM000673.2:g.130403031T>A | GRCh38 |
| NC_000011.9:g.130272926T>A , CM000673.1:g.130272926T>A | GRCh37 |
| NC_000011.8:g.129778136T>A | NCBI36 |
| NG_052870.1:g.30963A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2126T>A | ||
| XR_948178.1:n.1780T>A | ||
| XR_948179.1:n.1698T>A | ||
| XR_948180.1:n.1698T>A | ||
| XR_948181.1:n.537-270T>A | ||
| XR_948182.1:n.1858T>A | ||
| XR_948183.1:n.458+9232T>A | ||
| XR_948184.1:n.459-270T>A | ||
| XR_948185.1:n.388-270T>A | ||
| XR_948187.1:n.458+9232T>A | ||
| XR_948188.1:n.291-270T>A | ||
| XR_948189.1:n.339-270T>A | ||
| NR_148980.1:n.612-270T>A |