Canonical Allele Identifier:
CA13612182
Gene:
ClinVar RCV:
ClinVar Variation:
COSMIC:
COSN17428502
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97540661 (EAS)
Genomes Max Group AF
0.97540661 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5043783C>T , CM000674.2:g.5043783C>T | GRCh38 |
| NC_000012.11:g.5152949C>T , CM000674.1:g.5152949C>T | GRCh37 |
| NC_000012.10:g.5023210C>T | NCBI36 |
| NG_012198.1:g.4865C>T |