Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.54728095A>CCA356908753KITc.1955A>C (p.Asn652Thr)
n.2042A>C
c.1952A>C (p.Asn651Thr)
c.1967A>C (p.Asn656Thr)
n.2379A>C
n.2122A>C
c.1454A>C (p.Asn485Thr)
n.2182A>C
n.874A>C
c.1964A>C (p.Asn655Thr)
n.2061A>C
dbSNP
4g.54728095A>TCA356908752KITc.1955A>T (p.Asn652Ile)
n.2042A>T
c.1952A>T (p.Asn651Ile)
c.1967A>T (p.Asn656Ile)
n.2379A>T
n.2122A>T
c.1454A>T (p.Asn485Ile)
n.2182A>T
n.874A>T
c.1964A>T (p.Asn655Ile)
n.2061A>T
dbSNP gnomAD v4
4g.54728095A>GCA16602403KITc.1955A>G (p.Asn652Ser)
n.2042A>G
c.1952A>G (p.Asn651Ser)
c.1967A>G (p.Asn656Ser)
n.2379A>G
n.2122A>G
c.1454A>G (p.Asn485Ser)
n.2182A>G
n.874A>G
c.1964A>G (p.Asn655Ser)
n.2061A>G
ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched