Canonical Allele Identifier:
CA12241234
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46410246 (EAS)
Genomes Max Group AF
0.46410246 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80593088C>A , CM000668.2:g.80593088C>A | GRCh38 |
| NC_000006.11:g.81302805C>A , CM000668.1:g.81302805C>A | GRCh37 |
| NC_000006.10:g.81359524C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_002956360.1:n.182+12683C>A |