Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403385A= , CM000673.2:g.130403385A= | GRCh38 |
| NC_000011.9:g.130273280A= , CM000673.1:g.130273280A= | GRCh37 |
| NC_000011.8:g.129778490A= | NCBI36 |
| NG_052870.1:g.30609T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2480A= | ||
| XR_948178.1:n.2134A= | ||
| XR_948179.1:n.2052A= | ||
| XR_948180.1:n.2052A= | ||
| XR_948181.1:n.621A= | ||
| XR_948182.1:n.2212A= | ||
| XR_948183.1:n.458+9586A= | ||
| XR_948184.1:n.543A= | ||
| XR_948185.1:n.472A= | ||
| XR_948187.1:n.458+9586A= | ||
| XR_948188.1:n.375A= | ||
| XR_948189.1:n.423A= | ||
| NR_148980.1:n.696A= |