Canonical Allele Identifier:
CA261374886
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61610108 (AFR)
Genomes Max Group AF
0.61610108 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.52417637T>C , CM000676.2:g.52417637T>C | GRCh38 |
| NC_000014.8:g.52884355T>C , CM000676.1:g.52884355T>C | GRCh37 |
| NC_000014.7:g.51954105T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_943866.1:n.3066A>G |