Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403043T= , CM000673.2:g.130403043T= | GRCh38 |
| NC_000011.9:g.130272938T= , CM000673.1:g.130272938T= | GRCh37 |
| NC_000011.8:g.129778148T= | NCBI36 |
| NG_052870.1:g.30951A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2138T= | ||
| XR_948178.1:n.1792T= | ||
| XR_948179.1:n.1710T= | ||
| XR_948180.1:n.1710T= | ||
| XR_948181.1:n.537-258T= | ||
| XR_948182.1:n.1870T= | ||
| XR_948183.1:n.458+9244T= | ||
| XR_948184.1:n.459-258T= | ||
| XR_948185.1:n.388-258T= | ||
| XR_948187.1:n.458+9244T= | ||
| XR_948188.1:n.291-258T= | ||
| XR_948189.1:n.339-258T= | ||
| NR_148980.1:n.612-258T= |