Canonical Allele Identifier:
CA11830713
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.87730374 (EAS)
Genomes Max Group AF
0.87730374 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.66868139G>A , CM000666.2:g.66868139G>A | GRCh38 |
| NC_000004.11:g.67733857G>A , CM000666.1:g.67733857G>A | GRCh37 |
| NC_000004.10:g.67416452G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_938847.1:n.262C>T | ||
| XR_938848.1:n.179+2627C>T | ||
| XR_938847.2:n.509C>T | ||
| XR_938848.2:n.426+2627C>T |