Canonical Allele Identifier:
CA90160205
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3698817 (NFE)
Genomes Max Group AF
0.3698817 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.189527804A>G , CM000665.2:g.189527804A>G | GRCh38 |
| NC_000003.11:g.189245593A>G , CM000665.1:g.189245593A>G | GRCh37 |
| NC_000003.10:g.190728287A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001741068.1:n.889+22251A>G |