Canonical Allele Identifier:
CA13429894
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.94879962 (EAS)
Genomes Max Group AF
0.94879962 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116427650A>C , CM000673.2:g.116427650A>C | GRCh38 |
| NC_000011.9:g.116298367A>C , CM000673.1:g.116298367A>C | GRCh37 |
| NC_000011.8:g.115803577A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001748403.1:n.349+46227T>G |