Canonical Allele Identifier: CA129082539

Gene: PDGFRB

Linked Data

• dbSNP Id: rs1051617558
• gnomAD v2: 5-149535383-A-G
• gnomAD v3: 5-150155820-A-G
• gnomAD v4: 5-150155820-A-G
• MyVariant Identifiers: chr5:g.149535383A>G (hg19) ; chr5:g.150155820A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150155820A>G , CM000667.2:g.150155820A>G	GRCh38
NC_000005.9:g.149535383A>G , CM000667.1:g.149535383A>G	GRCh37
NC_000005.8:g.149515576A>G	NCBI36
NG_023367.1:g.5040T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261799.9:c.-430T>C MANE Select	ENSP00000261799.4:n.-430T>C
ENST00000261799.8:c.-430T>C	ENSP00000261799.4:n.-430T>C
ENST00000517660.1:n.41T>C
ENST00000520579.5:c.-430T>C	ENSP00000430026.1:n.-430T>C
ENST00000523456.1:n.53T>C
NM_002609.3:c.-430T>C	NP_002600.1:n.-430T>C
XM_005268464.2:c.-576T>C	XP_005268521.1:n.-576T>C
XM_011537659.1:c.-897T>C	XP_011535961.1:n.-897T>C
NM_001355016.1:c.-576T>C	NP_001341945.1:n.-576T>C
NM_001355017.1:c.-947T>C	NP_001341946.1:n.-947T>C
NR_149150.1:n.40T>C
NM_002609.4:c.-430T>C MANE Select	NP_002600.1:n.-430T>C
NM_001355016.2:c.-576T>C	NP_001341945.1:n.-576T>C
NM_001355017.2:c.-947T>C	NP_001341946.1:n.-947T>C
NR_149150.2:n.26T>C