Canonical Allele Identifier: CA447144821
Gene: PDGFRB HGNC NCBI

Linked Data

dbSNP Id: rs2113902802
MyVariant Identifiers: chr5:g.149509429C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150129866C>T , CM000667.2:g.150129866C>T GRCh38
NC_000005.9:g.149509429C>T , CM000667.1:g.149509429C>T GRCh37
NC_000005.8:g.149489622C>T NCBI36
NG_023367.1:g.30994G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261799.9:c.1470G>A MANE Select ENSP00000261799.4:p.Glu490=
ENST00000261799.8:c.1470G>A ENSP00000261799.4:p.Glu490=
ENST00000520579.5:c.*784G>A ENSP00000430026.1:n.*784G>A
NM_002609.3:c.1470G>A NP_002600.1:p.Glu490=
XM_005268464.2:c.1278G>A XP_005268521.1:p.Glu426=
XM_011537658.1:c.1470G>A XP_011535960.1:p.Glu490=
XM_011537659.1:c.1470G>A XP_011535961.1:p.Glu490=
XM_011537660.1:c.1470G>A XP_011535962.1:p.Glu490=
NM_001355016.1:c.1278G>A NP_001341945.1:p.Glu426=
NM_001355017.1:c.987G>A NP_001341946.1:p.Glu329=
NM_002609.4:c.1470G>A MANE Select NP_002600.1:p.Glu490=
NM_001355016.2:c.1278G>A NP_001341945.1:p.Glu426=
NM_001355017.2:c.987G>A NP_001341946.1:p.Glu329=