Canonical Allele Identifier: CA16609705
Gene: PDGFRB HGNC NCBI

Linked Data

ClinVar Variation Id: 375682
dbSNP Id: rs1060499542

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150125556A>G , CM000667.2:g.150125556A>G GRCh38
NC_000005.9:g.149505119A>G , CM000667.1:g.149505119A>G GRCh37
NC_000005.8:g.149485312A>G NCBI36
NG_023367.1:g.35304T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261799.9:c.1696T>C MANE Select ENSP00000261799.4:p.Trp566Arg
ENST00000261799.8:c.1696T>C ENSP00000261799.4:p.Trp566Arg
ENST00000520579.5:c.*1010T>C ENSP00000430026.1:n.*1010T>C
NM_002609.3:c.1696T>C NP_002600.1:p.Trp566Arg
XM_005268464.2:c.1504T>C XP_005268521.1:p.Trp502Arg
XM_011537658.1:c.1696T>C XP_011535960.1:p.Trp566Arg
XM_011537659.1:c.1696T>C XP_011535961.1:p.Trp566Arg
XM_011537660.1:c.1696T>C XP_011535962.1:p.Trp566Arg
NM_001355016.1:c.1504T>C NP_001341945.1:p.Trp502Arg
NM_001355017.1:c.1213T>C NP_001341946.1:p.Trp405Arg
NM_002609.4:c.1696T>C MANE Select NP_002600.1:p.Trp566Arg
NM_001355016.2:c.1504T>C NP_001341945.1:p.Trp502Arg
NM_001355017.2:c.1213T>C NP_001341946.1:p.Trp405Arg