Canonical Allele Identifier: CA361762995
Gene: PDGFRB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150123142G>C , CM000667.2:g.150123142G>C GRCh38
NC_000005.9:g.149502705G>C , CM000667.1:g.149502705G>C GRCh37
NC_000005.8:g.149482898G>C NCBI36
NG_023367.1:g.37718C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261799.9:c.2083C>G MANE Select ENSP00000261799.4:p.Arg695Gly
ENST00000261799.8:c.2083C>G ENSP00000261799.4:p.Arg695Gly
ENST00000520579.5:c.*1397C>G ENSP00000430026.1:n.*1397C>G
NM_002609.3:c.2083C>G NP_002600.1:p.Arg695Gly
XM_005268464.2:c.1891C>G XP_005268521.1:p.Arg631Gly
XM_011537658.1:c.2083C>G XP_011535960.1:p.Arg695Gly
XM_011537659.1:c.2083C>G XP_011535961.1:p.Arg695Gly
XM_011537660.1:c.2083C>G XP_011535962.1:p.Arg695Gly
NM_001355016.1:c.1891C>G NP_001341945.1:p.Arg631Gly
NM_001355017.1:c.1600C>G NP_001341946.1:p.Arg534Gly
NM_002609.4:c.2083C>G MANE Select NP_002600.1:p.Arg695Gly
NM_001355016.2:c.1891C>G NP_001341945.1:p.Arg631Gly
NM_001355017.2:c.1600C>G NP_001341946.1:p.Arg534Gly