Canonical Allele Identifier: CA447144657

Gene: PDGFRB

Linked Data

• ClinVar Variation Id: 766215
• ClinVar RCV Id: RCV001414051
• dbSNP Id: rs1580804718
• MyVariant Identifiers: chr5:g.149509336G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150129773G>A , CM000667.2:g.150129773G>A	GRCh38
NC_000005.9:g.149509336G>A , CM000667.1:g.149509336G>A	GRCh37
NC_000005.8:g.149489529G>A	NCBI36
NG_023367.1:g.31087C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261799.9:c.1563C>T MANE Select	ENSP00000261799.4:p.Val521=
ENST00000261799.8:c.1563C>T	ENSP00000261799.4:p.Val521=
ENST00000520579.5:c.*877C>T	ENSP00000430026.1:n.*877C>T
NM_002609.3:c.1563C>T	NP_002600.1:p.Val521=
XM_005268464.2:c.1371C>T	XP_005268521.1:p.Val457=
XM_011537658.1:c.1563C>T	XP_011535960.1:p.Val521=
XM_011537659.1:c.1563C>T	XP_011535961.1:p.Val521=
XM_011537660.1:c.1563C>T	XP_011535962.1:p.Val521=
NM_001355016.1:c.1371C>T	NP_001341945.1:p.Val457=
NM_001355017.1:c.1080C>T	NP_001341946.1:p.Val360=
NM_002609.4:c.1563C>T MANE Select	NP_002600.1:p.Val521=
NM_001355016.2:c.1371C>T	NP_001341945.1:p.Val457=
NM_001355017.2:c.1080C>T	NP_001341946.1:p.Val360=