Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403483C= , CM000673.2:g.130403483C= | GRCh38 |
| NC_000011.9:g.130273378C= , CM000673.1:g.130273378C= | GRCh37 |
| NC_000011.8:g.129778588C= | NCBI36 |
| NG_052870.1:g.30511G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2578C= | ||
| XR_948178.1:n.2232C= | ||
| XR_948179.1:n.2150C= | ||
| XR_948180.1:n.2150C= | ||
| XR_948181.1:n.719C= | ||
| XR_948182.1:n.2310C= | ||
| XR_948183.1:n.458+9684C= | ||
| XR_948184.1:n.641C= | ||
| XR_948185.1:n.570C= | ||
| XR_948187.1:n.458+9684C= | ||
| XR_948188.1:n.473C= | ||
| XR_948189.1:n.521C= | ||
| NR_148980.1:n.794C= |