Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.229432877C>ACA221483ACTA1c.133G>T (p.Val45Phe)
c.-3G>T (n.-3G>T)
ClinVar dbSNP
1g.229432877C>TCA345151077ACTA1c.133G>A (p.Val45Ile)
c.-3G>A (n.-3G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.229432877C=CA1144233517ACTA1c.133G= (p.Val45=)
c.-3G= (n.-3G=)
dbSNP

Number of alleles fetched