Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.72891502A>TCA122795SPRc.751A>T (p.Lys251Ter)
n.696A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.72891502A>GCA347232865SPRc.751A>G (p.Lys251Glu)
n.696A>G
dbSNP gnomAD v4
2g.72891502A=CA1260705240SPRc.751A= (p.Lys251=)
n.696A=
dbSNP

Number of alleles fetched