Canonical Allele Identifier:
CA292183998
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63844947 (AFR)
Genomes Max Group AF
0.63844947 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.54470764A>G , CM000679.2:g.54470764A>G | GRCh38 |
| NC_000017.10:g.52548125A>G , CM000679.1:g.52548125A>G | GRCh37 |
| NC_000017.9:g.49903124A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_934865.1:n.135-82190T>C |