Canonical Allele Identifier:
CA16558700
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39135994 (EAS)
Genomes Max Group AF
0.39135994 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.55733603C>T , CM000680.2:g.55733603C>T | GRCh38 |
| NC_000018.9:g.53400834C>T , CM000680.1:g.53400834C>T | GRCh37 |
| NC_000018.8:g.51551832C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_935485.1:n.62-51296C>T | ||
| XR_001753451.1:n.62-51296C>T | ||
| XR_935485.2:n.62-51296C>T |