Canonical Allele Identifier: CA805576781

Gene: PDGFRB

Linked Data

• dbSNP Id: rs1265642703
• gnomAD v4: 5-150155841-C-G
• MyVariant Identifiers: chr5:g.149535404C>G (hg19) ; chr5:g.150155841C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150155841C>G , CM000667.2:g.150155841C>G	GRCh38
NC_000005.9:g.149535404C>G , CM000667.1:g.149535404C>G	GRCh37
NC_000005.8:g.149515597C>G	NCBI36
NG_023367.1:g.5019G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261799.9:c.-451G>C MANE Select	ENSP00000261799.4:n.-451G>C
ENST00000261799.8:c.-451G>C	ENSP00000261799.4:n.-451G>C
ENST00000517660.1:n.20G>C
ENST00000520579.5:c.-451G>C	ENSP00000430026.1:n.-451G>C
ENST00000523456.1:n.32G>C
NM_002609.3:c.-451G>C	NP_002600.1:n.-451G>C
XM_005268464.2:c.-597G>C	XP_005268521.1:n.-597G>C
XM_011537659.1:c.-918G>C	XP_011535961.1:n.-918G>C
NM_001355016.1:c.-597G>C	NP_001341945.1:n.-597G>C
NM_001355017.1:c.-968G>C	NP_001341946.1:n.-968G>C
NR_149150.1:n.19G>C
NM_002609.4:c.-451G>C MANE Select	NP_002600.1:n.-451G>C
NM_001355016.2:c.-597G>C	NP_001341945.1:n.-597G>C
NM_001355017.2:c.-968G>C	NP_001341946.1:n.-968G>C
NR_149150.2:n.5G>C