Canonical Allele Identifier:
CA11591987
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44150374 (AFR)
Genomes Max Group AF
0.44150374 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.18975894G>T , CM000665.2:g.18975894G>T | GRCh38 |
| NC_000003.11:g.19017386G>T , CM000665.1:g.19017386G>T | GRCh37 |
| NC_000003.10:g.18992390G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_940638.1:n.437+7656C>A | ||
| XR_001740612.1:n.774+7656C>A | ||
| XR_001740613.1:n.303+9487G>T | ||
| XR_001740614.1:n.303+9487G>T | ||
| XR_001740615.1:n.304+9487G>T | ||
| XR_001740616.1:n.304+9487G>T |