Canonical Allele Identifier:
CA15810352
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5460514 (NFE)
Genomes Max Group AF
0.5460514 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92314657T>C , CM000676.2:g.92314657T>C | GRCh38 |
| NC_000014.8:g.92781001T>C , CM000676.1:g.92781001T>C | GRCh37 |
| NC_000014.7:g.91850754T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_944153.1:n.132-589T>C |