Canonical Allele Identifier: CA3508071

Gene: PDGFRB

Linked Data

• ClinVar Variation Id: 473400
• ClinVar RCV Id: RCV000559689 ; RCV001550038 ; RCV001724058 ; RCV003316722 ; RCV003935506
• dbSNP Id: rs2228439
• ExAC: 5:149511636 C / G
• gnomAD v2: 5-149511636-C-G
• gnomAD v3: 5-150132073-C-G
• gnomAD v4: 5-150132073-C-G
• MyVariant Identifiers: chr5:g.149511636C>G (hg19) ; chr5:g.150132073C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150132073C>G , CM000667.2:g.150132073C>G	GRCh38
NC_000005.9:g.149511636C>G , CM000667.1:g.149511636C>G	GRCh37
NC_000005.8:g.149491829C>G	NCBI36
NG_023367.1:g.28787G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261799.9:c.1149G>C MANE Select	ENSP00000261799.4:p.Leu383=
ENST00000261799.8:c.1149G>C	ENSP00000261799.4:p.Leu383=
ENST00000520579.5:c.*463G>C	ENSP00000430026.1:n.*463G>C
NM_002609.3:c.1149G>C	NP_002600.1:p.Leu383=
XM_005268464.2:c.957G>C	XP_005268521.1:p.Leu319=
XM_011537658.1:c.1149G>C	XP_011535960.1:p.Leu383=
XM_011537659.1:c.1149G>C	XP_011535961.1:p.Leu383=
XM_011537660.1:c.1149G>C	XP_011535962.1:p.Leu383=
NM_001355016.1:c.957G>C	NP_001341945.1:p.Leu319=
NM_001355017.1:c.666G>C	NP_001341946.1:p.Leu222=
NM_002609.4:c.1149G>C MANE Select	NP_002600.1:p.Leu383=
NM_001355016.2:c.957G>C	NP_001341945.1:p.Leu319=
NM_001355017.2:c.666G>C	NP_001341946.1:p.Leu222=