Canonical Allele Identifier:
CA15970681
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.71395838 (AFR)
Genomes Max Group AF
0.71395838 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.17848636G>A , CM000682.2:g.17848636G>A | GRCh38 |
| NC_000020.10:g.17829280G>A , CM000682.1:g.17829280G>A | GRCh37 |
| NC_000020.9:g.17777280G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001754511.1:n.294+1529C>T |