Canonical Allele Identifier:
CA13850351
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48457482 (SAS)
Genomes Max Group AF
0.48457482 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.94811138C>T , CM000675.2:g.94811138C>T | GRCh38 |
| NC_000013.10:g.95463392C>T , CM000675.1:g.95463392C>T | GRCh37 |
| NC_000013.9:g.94261393C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110754.1:n.256+46587C>T |