Canonical Allele Identifier:
CA15925469
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.90738564 (SAS)
Genomes Max Group AF
0.90738564 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.71581359T>C , CM000680.2:g.71581359T>C | GRCh38 |
| NC_000018.9:g.69248595T>C , CM000680.1:g.69248595T>C | GRCh37 |
| NC_000018.8:g.67399575T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001753502.1:n.149+33304T>C |