Canonical Allele Identifier:
CA159094472
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38891852 (AFR)
Genomes Max Group AF
0.38891852 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.64290139T>C , CM000669.2:g.64290139T>C | GRCh38 |
| NC_000007.13:g.63750517T>C , CM000669.1:g.63750517T>C | GRCh37 |
| NC_000007.12:g.63387952T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_927595.1:n.247-583A>G | ||
| XR_927598.1:n.52A>G | ||
| XR_001745021.1:n.52A>G | ||
| XR_927595.2:n.247-583A>G | ||
| XR_927597.2:n.247-583A>G |