Canonical Allele Identifier:
CA16185507
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66485611 (EAS)
Genomes Max Group AF
0.66485611 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.62558371C>T , CM000666.2:g.62558371C>T | GRCh38 |
| NC_000004.11:g.63424089C>T , CM000666.1:g.63424089C>T | GRCh37 |
| NC_000004.10:g.63106684C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_938814.1:n.161-5473C>T |