Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403152C= , CM000673.2:g.130403152C= | GRCh38 |
| NC_000011.9:g.130273047C= , CM000673.1:g.130273047C= | GRCh37 |
| NC_000011.8:g.129778257C= | NCBI36 |
| NG_052870.1:g.30842G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2247C= | ||
| XR_948178.1:n.1901C= | ||
| XR_948179.1:n.1819C= | ||
| XR_948180.1:n.1819C= | ||
| XR_948181.1:n.537-149C= | ||
| XR_948182.1:n.1979C= | ||
| XR_948183.1:n.458+9353C= | ||
| XR_948184.1:n.459-149C= | ||
| XR_948185.1:n.388-149C= | ||
| XR_948187.1:n.458+9353C= | ||
| XR_948188.1:n.291-149C= | ||
| XR_948189.1:n.339-149C= | ||
| NR_148980.1:n.612-149C= |