Canonical Allele Identifier:
CA13941735
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41677104 (NFE)
Genomes Max Group AF
0.41677104 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.68743482G>A , CM000676.2:g.68743482G>A | GRCh38 |
| NC_000014.8:g.69210199G>A , CM000676.1:g.69210199G>A | GRCh37 |
| NC_000014.7:g.68279952G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001750931.1:n.376-895C>T |