Canonical Allele Identifier:
CA13414122
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97171441 (EAS)
Genomes Max Group AF
0.97171441 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34434641T>C , CM000673.2:g.34434641T>C | GRCh38 |
| NC_000011.9:g.34456188T>C , CM000673.1:g.34456188T>C | GRCh37 |
| NC_000011.8:g.34412764T>C | NCBI36 |
| NG_013339.1:g.717T>C | |
| NG_013339.2:g.717T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_931180.1:n.193+1524T>C | ||
| XR_931180.2:n.265+1524T>C |