Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403363C= , CM000673.2:g.130403363C= | GRCh38 |
| NC_000011.9:g.130273258C= , CM000673.1:g.130273258C= | GRCh37 |
| NC_000011.8:g.129778468C= | NCBI36 |
| NG_052870.1:g.30631G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2458C= | ||
| XR_948178.1:n.2112C= | ||
| XR_948179.1:n.2030C= | ||
| XR_948180.1:n.2030C= | ||
| XR_948181.1:n.599C= | ||
| XR_948182.1:n.2190C= | ||
| XR_948183.1:n.458+9564C= | ||
| XR_948184.1:n.521C= | ||
| XR_948185.1:n.450C= | ||
| XR_948187.1:n.458+9564C= | ||
| XR_948188.1:n.353C= | ||
| XR_948189.1:n.401C= | ||
| NR_148980.1:n.674C= |