Canonical Allele Identifier:
CA15824085
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1799087 (NFE)
Genomes Max Group AF
0.1799087 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.71199580C>T , CM000676.2:g.71199580C>T | GRCh38 |
| NC_000014.8:g.71666297C>T , CM000676.1:g.71666297C>T | GRCh37 |
| NC_000014.7:g.70736050C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011537452.2:c.888-9242G>A | XP_011535754.2:n.888-9242G>A |