Canonical Allele Identifier: CA211315

Gene: PDGFRB

Linked Data

• ClinVar Variation Id: 135650
• ClinVar RCV Id: RCV000128554 ; RCV001560202 ; RCV001795218 ; RCV003764848
• dbSNP Id: rs138008832
• ExAC: 5:149502705 G / A
• gnomAD v2: 5-149502705-G-A
• gnomAD v3: 5-150123142-G-A
• gnomAD v4: 5-150123142-G-A
• MyVariant Identifiers: chr5:g.149502705G>A (hg19) ; chr5:g.150123142G>A (hg38)
• PubMed: PMID:24796542

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150123142G>A , CM000667.2:g.150123142G>A	GRCh38
NC_000005.9:g.149502705G>A , CM000667.1:g.149502705G>A	GRCh37
NC_000005.8:g.149482898G>A	NCBI36
NG_023367.1:g.37718C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261799.9:c.2083C>T MANE Select	ENSP00000261799.4:p.Arg695Cys
ENST00000261799.8:c.2083C>T	ENSP00000261799.4:p.Arg695Cys
ENST00000520579.5:c.*1397C>T	ENSP00000430026.1:n.*1397C>T
NM_002609.3:c.2083C>T	NP_002600.1:p.Arg695Cys
XM_005268464.2:c.1891C>T	XP_005268521.1:p.Arg631Cys
XM_011537658.1:c.2083C>T	XP_011535960.1:p.Arg695Cys
XM_011537659.1:c.2083C>T	XP_011535961.1:p.Arg695Cys
XM_011537660.1:c.2083C>T	XP_011535962.1:p.Arg695Cys
NM_001355016.1:c.1891C>T	NP_001341945.1:p.Arg631Cys
NM_001355017.1:c.1600C>T	NP_001341946.1:p.Arg534Cys
NM_002609.4:c.2083C>T MANE Select	NP_002600.1:p.Arg695Cys
NM_001355016.2:c.1891C>T	NP_001341945.1:p.Arg631Cys
NM_001355017.2:c.1600C>T	NP_001341946.1:p.Arg534Cys