Canonical Allele Identifier:
CA16552542
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58586503 (AFR)
Genomes Max Group AF
0.58586503 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.24526812C>T , CM000680.2:g.24526812C>T | GRCh38 |
| NC_000018.9:g.22106776C>T , CM000680.1:g.22106776C>T | GRCh37 |
| NC_000018.8:g.20360774C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_935294.1:n.1119-8724G>A |