Canonical Allele Identifier: CA343799

Gene: PDGFRB

Linked Data

• ClinVar Variation Id: 39589
• ClinVar RCV Id: RCV000032789 ; RCV002254271
• dbSNP Id: rs397509382
• ExAC: 5:149497359 G / A
• gnomAD v2: 5-149497359-G-A
• gnomAD v3: 5-150117796-G-A
• gnomAD v4: 5-150117796-G-A
• COSMIC: COSM5720474
• MyVariant Identifiers: chr5:g.149497359G>A (hg19) ; chr5:g.150117796G>A (hg38)
• PubMed: PMID:20301594 ; PMID:23255827

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150117796G>A , CM000667.2:g.150117796G>A	GRCh38
NC_000005.9:g.149497359G>A , CM000667.1:g.149497359G>A	GRCh37
NC_000005.8:g.149477552G>A	NCBI36
NG_012303.1:g.577C>T
NG_023367.1:g.43064C>T
NG_012303.2:g.577C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261799.9:c.2959C>T MANE Select	ENSP00000261799.4:p.Arg987Trp
ENST00000261799.8:c.2959C>T	ENSP00000261799.4:p.Arg987Trp
ENST00000520579.5:c.*2273C>T	ENSP00000430026.1:n.*2273C>T
NM_002609.3:c.2959C>T	NP_002600.1:p.Arg987Trp
XM_005268464.2:c.2767C>T	XP_005268521.1:p.Arg923Trp
XM_011537658.1:c.2959C>T	XP_011535960.1:p.Arg987Trp
XM_011537659.1:c.2959C>T	XP_011535961.1:p.Arg987Trp
NM_001355016.1:c.2767C>T	NP_001341945.1:p.Arg923Trp
NM_001355017.1:c.2476C>T	NP_001341946.1:p.Arg826Trp
NM_002609.4:c.2959C>T MANE Select	NP_002600.1:p.Arg987Trp
NM_001355016.2:c.2767C>T	NP_001341945.1:p.Arg923Trp
NM_001355017.2:c.2476C>T	NP_001341946.1:p.Arg826Trp