Canonical Allele Identifier:
CA16065269
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69132369 (AFR)
Genomes Max Group AF
0.69132369 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.116495665T>C , CM000663.2:g.116495665T>C | GRCh38 |
| NC_000001.10:g.117038287T>C , CM000663.1:g.117038287T>C | GRCh37 |
| NC_000001.9:g.116839810T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_947732.1:n.8955A>G | ||
| XR_947733.1:n.8866A>G | ||
| XR_947734.1:n.3635A>G | ||
| XR_947735.1:n.6355-1610T>C | ||
| XR_947736.1:n.4037-1610T>C | ||
| XR_002958352.1:n.8802+2172T>C |