Canonical Allele Identifier:
CA11651523
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40178841 (EAS)
Genomes Max Group AF
0.40178841 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80243569C>T , CM000666.2:g.80243569C>T | GRCh38 |
| NC_000004.11:g.81164723C>T , CM000666.1:g.81164723C>T | GRCh37 |
| NC_000004.10:g.81383747C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_938930.1:n.186+11283C>T |