Canonical Allele Identifier:
CA12537493
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48110371 (SAS)
Genomes Max Group AF
0.48110371 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41815054G>A , CM000669.2:g.41815054G>A | GRCh38 |
| NC_000007.13:g.41854652G>A , CM000669.1:g.41854652G>A | GRCh37 |
| NC_000007.12:g.41821177G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001745185.1:n.965-56954G>A | ||
| XR_001745186.1:n.955-56954G>A |