Canonical Allele Identifier:
CA228632921
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42744565 (EAS)
Genomes Max Group AF
0.42744565 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113482039G>T , CM000673.2:g.113482039G>T | GRCh38 |
| NC_000011.9:g.113352761G>T , CM000673.1:g.113352761G>T | GRCh37 |
| NC_000011.8:g.112857971G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948024.2:n.379-2466C>A |