Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403441G= , CM000673.2:g.130403441G= | GRCh38 |
| NC_000011.9:g.130273336G= , CM000673.1:g.130273336G= | GRCh37 |
| NC_000011.8:g.129778546G= | NCBI36 |
| NG_052870.1:g.30553C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2536G= | ||
| XR_948178.1:n.2190G= | ||
| XR_948179.1:n.2108G= | ||
| XR_948180.1:n.2108G= | ||
| XR_948181.1:n.677G= | ||
| XR_948182.1:n.2268G= | ||
| XR_948183.1:n.458+9642G= | ||
| XR_948184.1:n.599G= | ||
| XR_948185.1:n.528G= | ||
| XR_948187.1:n.458+9642G= | ||
| XR_948188.1:n.431G= | ||
| XR_948189.1:n.479G= | ||
| NR_148980.1:n.752G= |