Canonical Allele Identifier:
CA242665987
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2974797 (AFR)
Genomes Max Group AF
0.2974797 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102501478A>G , CM000674.2:g.102501478A>G | GRCh38 |
| NC_000012.11:g.102895256A>G , CM000674.1:g.102895256A>G | GRCh37 |
| NC_000012.10:g.101419386A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001749289.1:n.1952+17590A>G |