Canonical Allele Identifier:
CA15739512
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37837685 (NFE)
Genomes Max Group AF
0.37837685 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68106295G>A , CM000674.2:g.68106295G>A | GRCh38 |
| NC_000012.11:g.68500075G>A , CM000674.1:g.68500075G>A | GRCh37 |
| NC_000012.10:g.66786342G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001749191.1:n.4638-10324C>T |