Canonical Allele Identifier:
CA15869084
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54545129 (AFR)
Genomes Max Group AF
0.54545129 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9232128C>T , CM000678.2:g.9232128C>T | GRCh38 |
| NC_000016.9:g.9325985C>T , CM000678.1:g.9325985C>T | GRCh37 |
| NC_000016.8:g.9233486C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_933054.1:n.70+47395C>T |