Canonical Allele Identifier:
CA225622552
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22532365 (EAS)
Genomes Max Group AF
0.22532365 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.80666008C>T , CM000673.2:g.80666008C>T | GRCh38 |
| NC_000011.9:g.80377052C>T , CM000673.1:g.80377052C>T | GRCh37 |
| NC_000011.8:g.80054700C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_247272.2:n.125-150170G>A |