Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.5232968T>ACA5839884HBDc.440A>T (p.His147Leu)
c.316-170A>T (n.316-170A>T)
c.217A>T (p.Ile73Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.5232968T>CCA124697HBDc.440A>G (p.His147Arg)
c.316-170A>G (n.316-170A>G)
c.217A>G (p.Ile73Val)
 ClinVar dbSNP

Number of alleles fetched