Canonical Allele Identifier:
CA11590495
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25976657 (SAS)
Genomes Max Group AF
0.25976657 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.45823240T>C , CM000665.2:g.45823240T>C | GRCh38 |
| NC_000003.11:g.45864732T>C , CM000665.1:g.45864732T>C | GRCh37 |
| NC_000003.10:g.45839736T>C | NCBI36 |
| NG_033917.1:g.97485A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001740681.1:n.1012-3451T>C |