Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403336A= , CM000673.2:g.130403336A= | GRCh38 |
| NC_000011.9:g.130273231A= , CM000673.1:g.130273231A= | GRCh37 |
| NC_000011.8:g.129778441A= | NCBI36 |
| NG_052870.1:g.30658T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2431A= | ||
| XR_948178.1:n.2085A= | ||
| XR_948179.1:n.2003A= | ||
| XR_948180.1:n.2003A= | ||
| XR_948181.1:n.572A= | ||
| XR_948182.1:n.2163A= | ||
| XR_948183.1:n.458+9537A= | ||
| XR_948184.1:n.494A= | ||
| XR_948185.1:n.423A= | ||
| XR_948187.1:n.458+9537A= | ||
| XR_948188.1:n.326A= | ||
| XR_948189.1:n.374A= | ||
| NR_148980.1:n.647A= |