Canonical Allele Identifier: CA3507970

Gene: PDGFRB

Linked Data

• ClinVar Variation Id: 540600
• ClinVar RCV Id: RCV000650691 ; RCV003937970
• dbSNP Id: rs540480924
• ExAC: 5:149509427 A / G
• gnomAD v2: 5-149509427-A-G
• gnomAD v3: 5-150129864-A-G
• gnomAD v4: 5-150129864-A-G
• MyVariant Identifiers: chr5:g.149509427A>G (hg19) ; chr5:g.150129864A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150129864A>G , CM000667.2:g.150129864A>G	GRCh38
NC_000005.9:g.149509427A>G , CM000667.1:g.149509427A>G	GRCh37
NC_000005.8:g.149489620A>G	NCBI36
NG_023367.1:g.30996T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261799.9:c.1472T>C MANE Select	ENSP00000261799.4:p.Val491Ala
ENST00000261799.8:c.1472T>C	ENSP00000261799.4:p.Val491Ala
ENST00000520579.5:c.*786T>C	ENSP00000430026.1:n.*786T>C
NM_002609.3:c.1472T>C	NP_002600.1:p.Val491Ala
XM_005268464.2:c.1280T>C	XP_005268521.1:p.Val427Ala
XM_011537658.1:c.1472T>C	XP_011535960.1:p.Val491Ala
XM_011537659.1:c.1472T>C	XP_011535961.1:p.Val491Ala
XM_011537660.1:c.1472T>C	XP_011535962.1:p.Val491Ala
NM_001355016.1:c.1280T>C	NP_001341945.1:p.Val427Ala
NM_001355017.1:c.989T>C	NP_001341946.1:p.Val330Ala
NM_002609.4:c.1472T>C MANE Select	NP_002600.1:p.Val491Ala
NM_001355016.2:c.1280T>C	NP_001341945.1:p.Val427Ala
NM_001355017.2:c.989T>C	NP_001341946.1:p.Val330Ala