Canonical Allele Identifier:
CA12595496
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43176479 (NFE)
Genomes Max Group AF
0.43176479 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.106718770C>T , CM000669.2:g.106718770C>T | GRCh38 |
| NC_000007.13:g.106359216C>T , CM000669.1:g.106359216C>T | GRCh37 |
| NC_000007.12:g.106146452C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001745317.1:n.119+13572G>A |