Canonical Allele Identifier:
CA72256529
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53261565 (EAS)
Genomes Max Group AF
0.53261565 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30438593C>T , CM000665.2:g.30438593C>T | GRCh38 |
| NC_000003.11:g.30480085C>T , CM000665.1:g.30480085C>T | GRCh37 |
| NC_000003.10:g.30455089C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_940682.1:n.416+2414G>A | ||
| XR_940683.1:n.328+2414G>A | ||
| XR_940686.1:n.1368-30440C>T | ||
| XR_940687.1:n.1416-30440C>T | ||
| XR_001740627.1:n.802-30440C>T | ||
| XR_001740628.1:n.850-30440C>T | ||
| XR_940683.2:n.293+2414G>A |