Canonical Allele Identifier:
CA221875308
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30966815 (NFE)
Genomes Max Group AF
0.30966815 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.43214511A>G , CM000673.2:g.43214511A>G | GRCh38 |
| NC_000011.9:g.43236061A>G , CM000673.1:g.43236061A>G | GRCh37 |
| NC_000011.8:g.43192637A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000533565.1:n.129+54754T>C |