Canonical Allele Identifier:
CA14004431
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59286232 (NFE)
Genomes Max Group AF
0.59286232 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.48903598A>C , CM000676.2:g.48903598A>C | GRCh38 |
| NC_000014.8:g.49372801A>C , CM000676.1:g.49372801A>C | GRCh37 |
| NC_000014.7:g.48442551A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001750756.1:n.504+94634T>G |