Canonical Allele Identifier:
CA337622080
Gene:
dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69847447 (AFR)
Genomes Max Group AF
0.69847447 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8556048A>G , CM000686.2:g.8556048A>G | GRCh38 |
| NC_000024.9:g.8424089A>G , CM000686.1:g.8424089A>G | GRCh37 |
| NC_000024.8:g.8484089A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624593.1:c.*23-6253T>C | ENSP00000485106.1:n.*23-6253T>C |