Canonical Allele Identifier: CA16609704

Gene: PDGFRB

Linked Data

• ClinVar Variation Id: 375681
• ClinVar RCV Id: RCV000454369
• dbSNP Id: rs1060499540
• MyVariant Identifiers: chr5:g.149500488T>A (hg19) ; chr5:g.150120925T>A (hg38)
• PubMed: PMID:26455322 ; PMID:28334876

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150120925T>A , CM000667.2:g.150120925T>A	GRCh38
NC_000005.9:g.149500488T>A , CM000667.1:g.149500488T>A	GRCh37
NC_000005.8:g.149480681T>A	NCBI36
NG_023367.1:g.39935A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261799.9:c.2549A>T MANE Select	ENSP00000261799.4:p.Asp850Val
ENST00000261799.8:c.2549A>T	ENSP00000261799.4:p.Asp850Val
ENST00000519575.5:n.463A>T
ENST00000520579.5:c.*1863A>T	ENSP00000430026.1:n.*1863A>T
NM_002609.3:c.2549A>T	NP_002600.1:p.Asp850Val
XM_005268464.2:c.2357A>T	XP_005268521.1:p.Asp786Val
XM_011537658.1:c.2549A>T	XP_011535960.1:p.Asp850Val
XM_011537659.1:c.2549A>T	XP_011535961.1:p.Asp850Val
XM_011537660.1:c.2549A>T	XP_011535962.1:p.Asp850Val
NM_001355016.1:c.2357A>T	NP_001341945.1:p.Asp786Val
NM_001355017.1:c.2066A>T	NP_001341946.1:p.Asp689Val
NM_002609.4:c.2549A>T MANE Select	NP_002600.1:p.Asp850Val
NM_001355016.2:c.2357A>T	NP_001341945.1:p.Asp786Val
NM_001355017.2:c.2066A>T	NP_001341946.1:p.Asp689Val