Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169541110T>CCA1233780F5c.3980A>G (p.His1327Arg)
c.3995A>G (p.His1332Arg)
c.3569A>G (p.His1190Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169541110T>GCA343146213F5c.3980A>C (p.His1327Pro)
c.3995A>C (p.His1332Pro)
c.3569A>C (p.His1190Pro)
dbSNP gnomAD v4

Number of alleles fetched