Canonical Allele Identifier: CA328075
Gene: PDGFRB HGNC NCBI

Linked Data

ClinVar Variation Id: 55848
ClinVar RCV Id: RCV000049264 RCV000390507 RCV000454370 RCV001197225 RCV001201357
dbSNP Id: rs367543286
gnomAD v3: 5-150125571-G-A
gnomAD v4: 5-150125571-G-A
MyVariant Identifiers: chr5:g.149505134G>A (hg19) chr5:g.150125571G>A (hg38)
PubMed: PMID:23731537 PMID:23731542 PMID:26455322 PMID:28334876
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150125571G>A , CM000667.2:g.150125571G>A GRCh38
NC_000005.9:g.149505134G>A , CM000667.1:g.149505134G>A GRCh37
NC_000005.8:g.149485327G>A NCBI36
NG_023367.1:g.35289C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261799.9:c.1681C>T MANE Select ENSP00000261799.4:p.Arg561Cys
ENST00000261799.8:c.1681C>T ENSP00000261799.4:p.Arg561Cys
ENST00000520579.5:c.*995C>T ENSP00000430026.1:n.*995C>T
NM_002609.3:c.1681C>T NP_002600.1:p.Arg561Cys
XM_005268464.2:c.1489C>T XP_005268521.1:p.Arg497Cys
XM_011537658.1:c.1681C>T XP_011535960.1:p.Arg561Cys
XM_011537659.1:c.1681C>T XP_011535961.1:p.Arg561Cys
XM_011537660.1:c.1681C>T XP_011535962.1:p.Arg561Cys
NM_001355016.1:c.1489C>T NP_001341945.1:p.Arg497Cys
NM_001355017.1:c.1198C>T NP_001341946.1:p.Arg400Cys
NM_002609.4:c.1681C>T MANE Select NP_002600.1:p.Arg561Cys
NM_001355016.2:c.1489C>T NP_001341945.1:p.Arg497Cys
NM_001355017.2:c.1198C>T NP_001341946.1:p.Arg400Cys
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