Canonical Allele Identifier:
CA13140149
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3585793 (EAS)
Genomes Max Group AF
0.3585793 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.3366755A>C , CM000672.2:g.3366755A>C | GRCh38 |
| NC_000010.10:g.3408947A>C , CM000672.1:g.3408947A>C | GRCh37 |
| NC_000010.9:g.3398947A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_131187.1:n.162+47899A>C |