Canonical Allele Identifier:
CA12538083
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23020857 (AFR)
Genomes Max Group AF
0.23020857 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.46032946A>G , CM000669.2:g.46032946A>G | GRCh38 |
| NC_000007.13:g.46072544A>G , CM000669.1:g.46072544A>G | GRCh37 |
| NC_000007.12:g.46039069A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001745203.1:n.1270-3672A>G |