Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.54625911C>ACA461098768RP1c.2029C>A (p.Arg677=)
c.787+3623C>A (n.787+3623C>A)
c.2050C>A (p.Arg684=)
dbSNP
8g.54625911C>GCA370992572RP1c.2029C>G (p.Arg677Gly)
c.787+3623C>G (n.787+3623C>G)
c.2050C>G (p.Arg684Gly)
dbSNP
8g.54625911C>TCA253665RP1c.2029C>T (p.Arg677Ter)
c.787+3623C>T (n.787+3623C>T)
c.2050C>T (p.Arg684Ter)
ClinVar dbSNP gnomAD v4 COSMIC

Number of alleles fetched