Canonical Allele Identifier:
CA228522077
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14876672 (NFE)
Genomes Max Group AF
0.14876672 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.106625312G>A , CM000673.2:g.106625312G>A | GRCh38 |
| NC_000011.9:g.106496038G>A , CM000673.1:g.106496038G>A | GRCh37 |
| NC_000011.8:g.106001248G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_947990.1:n.67+36244G>A |