Canonical Allele Identifier:
CA12917126
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43040858 (AFR)
Genomes Max Group AF
0.43040858 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.88748082A>G , CM000670.2:g.88748082A>G | GRCh38 |
| NC_000008.10:g.89760311A>G , CM000670.1:g.89760311A>G | GRCh37 |
| NC_000008.9:g.89829427A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001745653.2:n.417-77582A>G |