Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403231T= , CM000673.2:g.130403231T= | GRCh38 |
| NC_000011.9:g.130273126T= , CM000673.1:g.130273126T= | GRCh37 |
| NC_000011.8:g.129778336T= | NCBI36 |
| NG_052870.1:g.30763A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2326T= | ||
| XR_948178.1:n.1980T= | ||
| XR_948179.1:n.1898T= | ||
| XR_948180.1:n.1898T= | ||
| XR_948181.1:n.537-70T= | ||
| XR_948182.1:n.2058T= | ||
| XR_948183.1:n.458+9432T= | ||
| XR_948184.1:n.459-70T= | ||
| XR_948185.1:n.388-70T= | ||
| XR_948187.1:n.458+9432T= | ||
| XR_948188.1:n.291-70T= | ||
| XR_948189.1:n.339-70T= | ||
| NR_148980.1:n.612-70T= |