Canonical Allele Identifier: CA361760167

Gene: PDGFRB

Linked Data

• ClinVar Variation Id: 2434631
• ClinVar RCV Id: RCV003131894
• dbSNP Id: rs1060499540
• gnomAD v2: 5-149500488-T-C
• gnomAD v4: 5-150120925-T-C
• MyVariant Identifiers: chr5:g.149500488T>C (hg19) ; chr5:g.150120925T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000261799.9:c.2549A>G MANE Select	ENSP00000261799.4:p.Asp850Gly
ENST00000261799.8:c.2549A>G	ENSP00000261799.4:p.Asp850Gly
ENST00000519575.5:n.463A>G
ENST00000520579.5:c.*1863A>G	ENSP00000430026.1:n.*1863A>G
NM_002609.3:c.2549A>G	NP_002600.1:p.Asp850Gly
XM_005268464.2:c.2357A>G	XP_005268521.1:p.Asp786Gly
XM_011537658.1:c.2549A>G	XP_011535960.1:p.Asp850Gly
XM_011537659.1:c.2549A>G	XP_011535961.1:p.Asp850Gly
XM_011537660.1:c.2549A>G	XP_011535962.1:p.Asp850Gly
NM_001355016.1:c.2357A>G	NP_001341945.1:p.Asp786Gly
NM_001355017.1:c.2066A>G	NP_001341946.1:p.Asp689Gly
NM_002609.4:c.2549A>G MANE Select	NP_002600.1:p.Asp850Gly
NM_001355016.2:c.2357A>G	NP_001341945.1:p.Asp786Gly
NM_001355017.2:c.2066A>G	NP_001341946.1:p.Asp689Gly