Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.29209873A>GCA342585ALKc.3749T>C (p.Ile1250Thr)
c.976T>C
n.626T>C
c.545T>C (p.Ile182Thr)
c.629T>C (p.Ile210Thr)
c.2618T>C (p.Ile873Thr)
c.902T>C (p.Ile301Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.29209873A>CCA346469860ALKc.3749T>G (p.Ile1250Ser)
c.976T>G
n.626T>G
c.545T>G (p.Ile182Ser)
c.629T>G (p.Ile210Ser)
c.2618T>G (p.Ile873Ser)
c.902T>G (p.Ile301Ser)
dbSNP
2g.29209873A>TCA346469862ALKc.3749T>A (p.Ile1250Asn)
c.976T>A
n.626T>A
c.545T>A (p.Ile182Asn)
c.629T>A (p.Ile210Asn)
c.2618T>A (p.Ile873Asn)
c.902T>A (p.Ile301Asn)
dbSNP

Number of alleles fetched