Canonical Allele Identifier:
CA337767845
Gene:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69972533 (AFR)
Genomes Max Group AF
0.69972533 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.15286718T>C , CM000686.2:g.15286718T>C | GRCh38 |
| NC_000024.9:g.17398598T>C , CM000686.1:g.17398598T>C | GRCh37 |
| NC_000024.8:g.15907992T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001756089.1:n.310-39540A>G |