Canonical Allele Identifier:
CA13420468
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.84709987 (EAS)
Genomes Max Group AF
0.84709987 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68682735C>T , CM000673.2:g.68682735C>T | GRCh38 |
| NC_000011.9:g.68450203C>T , CM000673.1:g.68450203C>T | GRCh37 |
| NC_000011.8:g.68206779C>T | NCBI36 |
| NG_052785.1:g.3261C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001748281.1:n.230+5106G>A |