Canonical Allele Identifier:
CA13430621
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50896232 (AMR)
Genomes Max Group AF
0.50896232 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118703966C>T , CM000673.2:g.118703966C>T | GRCh38 |
| NC_000011.9:g.118574675C>T , CM000673.1:g.118574675C>T | GRCh37 |
| NC_000011.8:g.118079885C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948067.1:n.282-642C>T | ||
| XR_948068.1:n.474-642C>T | ||
| XR_948069.1:n.382-642C>T | ||
| XR_948070.1:n.283-642C>T | ||
| XR_948071.1:n.287-713C>T | ||
| XR_001748408.1:n.116-642C>T | ||
| XR_001748409.1:n.98-642C>T | ||
| XR_948067.2:n.286-642C>T | ||
| XR_948068.2:n.952-642C>T | ||
| XR_948069.2:n.859-642C>T | ||
| XR_948070.2:n.287-642C>T | ||
| XR_948071.2:n.290-713C>T |