Canonical Allele Identifier:
CA13724118
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12431757 (EAS)
Genomes Max Group AF
0.12431757 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47245743T>C , CM000674.2:g.47245743T>C | GRCh38 |
| NC_000012.11:g.47639526T>C , CM000674.1:g.47639526T>C | GRCh37 |
| NC_000012.10:g.45925793T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_944896.1:n.909+3808A>G | ||
| XR_944896.2:n.911+3808A>G |