Canonical Allele Identifier:
CA16382918
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92847581 (EAS)
Genomes Max Group AF
0.92847581 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.21744013A>G , CM000672.2:g.21744013A>G | GRCh38 |
| NC_000010.10:g.22032942A>G , CM000672.1:g.22032942A>G | GRCh37 |
| NC_000010.9:g.22072948A>G | NCBI36 |
| NG_027818.1:g.214842A>G | |
| NG_027818.2:g.214842A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001747388.1:n.1010+6427T>C |