Canonical Allele Identifier:
CA123123266
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53164801 (NFE)
Genomes Max Group AF
0.53164801 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.92818872T>C , CM000667.2:g.92818872T>C | GRCh38 |
| NC_000005.9:g.92154579T>C , CM000667.1:g.92154579T>C | GRCh37 |
| NC_000005.8:g.92180335T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948567.1:n.234+69650A>G |