Canonical Allele Identifier: CA279057

Gene: PDGFRB

Linked Data

• ClinVar Variation Id: 217122
• ClinVar RCV Id: RCV000200957 ; RCV001335958
• dbSNP Id: rs863224946
• MyVariant Identifiers: chr5:g.149505064G>C (hg19) ; chr5:g.150125501G>C (hg38)
• PubMed: PMID:25454926

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150125501G>C , CM000667.2:g.150125501G>C	GRCh38
NC_000005.9:g.149505064G>C , CM000667.1:g.149505064G>C	GRCh37
NC_000005.8:g.149485257G>C	NCBI36
NG_023367.1:g.35359C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261799.9:c.1751C>G MANE Select	ENSP00000261799.4:p.Pro584Arg
ENST00000261799.8:c.1751C>G	ENSP00000261799.4:p.Pro584Arg
ENST00000520229.1:n.20C>G
ENST00000520579.5:c.*1065C>G	ENSP00000430026.1:n.*1065C>G
NM_002609.3:c.1751C>G	NP_002600.1:p.Pro584Arg
XM_005268464.2:c.1559C>G	XP_005268521.1:p.Pro520Arg
XM_011537658.1:c.1751C>G	XP_011535960.1:p.Pro584Arg
XM_011537659.1:c.1751C>G	XP_011535961.1:p.Pro584Arg
XM_011537660.1:c.1751C>G	XP_011535962.1:p.Pro584Arg
NM_001355016.1:c.1559C>G	NP_001341945.1:p.Pro520Arg
NM_001355017.1:c.1268C>G	NP_001341946.1:p.Pro423Arg
NM_002609.4:c.1751C>G MANE Select	NP_002600.1:p.Pro584Arg
NM_001355016.2:c.1559C>G	NP_001341945.1:p.Pro520Arg
NM_001355017.2:c.1268C>G	NP_001341946.1:p.Pro423Arg