Canonical Allele Identifier:
CA100019314
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11512281 (EAS)
Genomes Max Group AF
0.11512281 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.74006728A>G , CM000666.2:g.74006728A>G | GRCh38 |
| NC_000004.11:g.74872445A>G , CM000666.1:g.74872445A>G | GRCh37 |
| NC_000004.10:g.75091309A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_938874.1:n.450-167A>G |