Canonical Allele Identifier:
CA13667993
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4527752 (SAS)
Genomes Max Group AF
0.4527752 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.54196315C>T , CM000674.2:g.54196315C>T | GRCh38 |
| NC_000012.11:g.54590099C>T , CM000674.1:g.54590099C>T | GRCh37 |
| NC_000012.10:g.52876366C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_944983.1:n.367-4145C>T | ||
| XR_944984.1:n.194-4145C>T |