Canonical Allele Identifier:
CA351830449
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31198933 (NFE)
Genomes Max Group AF
0.31198933 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30420911G>A , CM000665.2:g.30420911G>A | GRCh38 |
| NC_000003.11:g.30462403G>A , CM000665.1:g.30462403G>A | GRCh37 |
| NC_000003.10:g.30437407G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_940686.1:n.1367+29023G>A | ||
| XR_940687.1:n.1415+29023G>A | ||
| XR_001740627.1:n.801+29023G>A | ||
| XR_001740628.1:n.849+29023G>A | ||
| XR_427322.3:n.802-15282G>A | ||
| XR_940683.2:n.1749C>T |