Canonical Allele Identifier:
CA14354220
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60631392 (NFE)
Genomes Max Group AF
0.60631392 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.79612092C>A , CM000678.2:g.79612092C>A | GRCh38 |
| NC_000016.9:g.79645989C>A , CM000678.1:g.79645989C>A | GRCh37 |
| NC_000016.8:g.78203490C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_243478.3:n.4757C>A | ||
| XR_933760.1:n.4851C>A | ||
| XR_243478.5:n.3764C>A | ||
| XR_933760.3:n.3762C>A |