Canonical Allele Identifier:
CA12520781
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.85811261 (EAS)
Genomes Max Group AF
0.85811261 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128222749A>G , CM000669.2:g.128222749A>G | GRCh38 |
| NC_000007.13:g.127862802A>G , CM000669.1:g.127862802A>G | GRCh37 |
| NC_000007.12:g.127650038A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_242343.2:n.459-1284A>G | ||
| XR_001745354.1:n.461-1209T>C |