Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.67711453C>GCA413423060ARc.*285C>G (n.*285C>G)
c.1937C>G (p.Ala646Gly)
c.564C>G (n.564C>G)
c.341C>G (p.Ala114Gly)
c.1367C>G (p.Ala456Gly)
dbSNP
Xg.67711453C>TCA413423061ARc.*285C>T (n.*285C>T)
c.1937C>T (p.Ala646Val)
c.564C>T (n.564C>T)
c.341C>T (p.Ala114Val)
c.1367C>T (p.Ala456Val)
dbSNP
Xg.67711453C>ACA120795ARc.*285C>A (n.*285C>A)
c.1937C>A (p.Ala646Asp)
c.564C>A (n.564C>A)
c.341C>A (p.Ala114Asp)
c.1367C>A (p.Ala456Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched