Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403430G= , CM000673.2:g.130403430G= | GRCh38 |
| NC_000011.9:g.130273325G= , CM000673.1:g.130273325G= | GRCh37 |
| NC_000011.8:g.129778535G= | NCBI36 |
| NG_052870.1:g.30564C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2525G= | ||
| XR_948178.1:n.2179G= | ||
| XR_948179.1:n.2097G= | ||
| XR_948180.1:n.2097G= | ||
| XR_948181.1:n.666G= | ||
| XR_948182.1:n.2257G= | ||
| XR_948183.1:n.458+9631G= | ||
| XR_948184.1:n.588G= | ||
| XR_948185.1:n.517G= | ||
| XR_948187.1:n.458+9631G= | ||
| XR_948188.1:n.420G= | ||
| XR_948189.1:n.468G= | ||
| NR_148980.1:n.741G= |