Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169549811C>ACA343124115F5c.1601G>T (p.Arg534Leu)
c.1190G>T (p.Arg397Leu)
dbSNP
1g.169549811C>TCA114378F5c.1601G>A (p.Arg534Gln)
c.1190G>A (p.Arg397Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched