Canonical Allele Identifier:
CA13830056
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23330637 (SAS)
Genomes Max Group AF
0.23330637 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.41565109C>T , CM000675.2:g.41565109C>T | GRCh38 |
| NC_000013.10:g.42139245C>T , CM000675.1:g.42139245C>T | GRCh37 |
| NC_000013.9:g.41037245C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_941903.2:n.2004C>T |