Canonical Allele Identifier:
CA13367437
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07978407 (EAS)
Genomes Max Group AF
0.07978407 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.117450864T>C , CM000672.2:g.117450864T>C | GRCh38 |
| NC_000010.10:g.119210375T>C , CM000672.1:g.119210375T>C | GRCh37 |
| NC_000010.9:g.119200365T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_946344.1:n.95-4189T>C |