Canonical Allele Identifier:
CA11427733
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52340264 (SAS)
Genomes Max Group AF
0.52340264 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.170412314C>A , CM000665.2:g.170412314C>A | GRCh38 |
| NC_000003.11:g.170130102C>A , CM000665.1:g.170130102C>A | GRCh37 |
| NC_000003.10:g.171612796C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_924700.1:n.238-483C>A |