Canonical Allele Identifier:
CA225437307
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29297098 (NFE)
Genomes Max Group AF
0.29297098 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.83110340T>G , CM000673.2:g.83110340T>G | GRCh38 |
| NC_000011.9:g.82821382T>G , CM000673.1:g.82821382T>G | GRCh37 |
| NC_000011.8:g.82499030T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_950365.1:n.149+6785A>C |