Canonical Allele Identifier:
CA13557103
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33980808 (EAS)
Genomes Max Group AF
0.33980808 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118702810T>C , CM000673.2:g.118702810T>C | GRCh38 |
| NC_000011.9:g.118573519T>C , CM000673.1:g.118573519T>C | GRCh37 |
| NC_000011.8:g.118078729T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948067.1:n.282-1798T>C | ||
| XR_948068.1:n.474-1798T>C | ||
| XR_948069.1:n.382-1798T>C | ||
| XR_948070.1:n.283-1798T>C | ||
| XR_948071.1:n.287-1869T>C | ||
| XR_001748408.1:n.116-1798T>C | ||
| XR_001748409.1:n.98-1798T>C | ||
| XR_948067.2:n.286-1798T>C | ||
| XR_948068.2:n.952-1798T>C | ||
| XR_948069.2:n.859-1798T>C | ||
| XR_948070.2:n.287-1798T>C | ||
| XR_948071.2:n.290-1869T>C |