Canonical Allele Identifier:
CA214885350
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19865762 (EAS)
Genomes Max Group AF
0.19865762 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.121141109C>A , CM000672.2:g.121141109C>A | GRCh38 |
| NC_000010.10:g.122900623C>A , CM000672.1:g.122900623C>A | GRCh37 |
| NC_000010.9:g.122890613C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_946379.1:n.286-10939C>A | ||
| XR_946379.2:n.357-10939C>A |