Canonical Allele Identifier:
CA180389506
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16357318 (NFE)
Genomes Max Group AF
0.16357318 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81489445G>A , CM000670.2:g.81489445G>A | GRCh38 |
| NC_000008.10:g.82401680G>A , CM000670.1:g.82401680G>A | GRCh37 |
| NC_000008.9:g.82564235G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001745980.1:n.514+27471G>A |