Canonical Allele Identifier:
CA12054766
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47683827 (SAS)
Genomes Max Group AF
0.47683827 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.73952687A>G , CM000667.2:g.73952687A>G | GRCh38 |
| NC_000005.9:g.73248512A>G , CM000667.1:g.73248512A>G | GRCh37 |
| NC_000005.8:g.73284268A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001742745.1:n.1400+5190A>G |