Canonical Allele Identifier:
CA16197918
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25013272 (SAS)
Genomes Max Group AF
0.25013272 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.116003028T>C , CM000666.2:g.116003028T>C | GRCh38 |
| NC_000004.11:g.116924184T>C , CM000666.1:g.116924184T>C | GRCh37 |
| NC_000004.10:g.117143633T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508414.5:n.337-80893A>G |