Canonical Allele Identifier: CA3507971

Gene: PDGFRB

Linked Data

• dbSNP Id: rs760629984
• ExAC: 5:149509437 C / T
• gnomAD v2: 5-149509437-C-T
• gnomAD v4: 5-150129874-C-T
• MyVariant Identifiers: chr5:g.149509437C>T (hg19) ; chr5:g.150129874C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150129874C>T , CM000667.2:g.150129874C>T	GRCh38
NC_000005.9:g.149509437C>T , CM000667.1:g.149509437C>T	GRCh37
NC_000005.8:g.149489630C>T	NCBI36
NG_023367.1:g.30986G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261799.9:c.1462G>A MANE Select	ENSP00000261799.4:p.Glu488Lys
ENST00000261799.8:c.1462G>A	ENSP00000261799.4:p.Glu488Lys
ENST00000520579.5:c.*776G>A	ENSP00000430026.1:n.*776G>A
NM_002609.3:c.1462G>A	NP_002600.1:p.Glu488Lys
XM_005268464.2:c.1270G>A	XP_005268521.1:p.Glu424Lys
XM_011537658.1:c.1462G>A	XP_011535960.1:p.Glu488Lys
XM_011537659.1:c.1462G>A	XP_011535961.1:p.Glu488Lys
XM_011537660.1:c.1462G>A	XP_011535962.1:p.Glu488Lys
NM_001355016.1:c.1270G>A	NP_001341945.1:p.Glu424Lys
NM_001355017.1:c.979G>A	NP_001341946.1:p.Glu327Lys
NM_002609.4:c.1462G>A MANE Select	NP_002600.1:p.Glu488Lys
NM_001355016.2:c.1270G>A	NP_001341945.1:p.Glu424Lys
NM_001355017.2:c.979G>A	NP_001341946.1:p.Glu327Lys