Canonical Allele Identifier:
CA12627784
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31797687 (NFE)
Genomes Max Group AF
0.31797687 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.13504104A>G , CM000669.2:g.13504104A>G | GRCh38 |
| NC_000007.13:g.13543729A>G , CM000669.1:g.13543729A>G | GRCh37 |
| NC_000007.12:g.13510254A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001745097.1:n.147+193781A>G |