Canonical Allele Identifier: CA3507757
Gene: PDGFRB HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.150123142G>T
GRCh37 chr5:g.149502705G>T
Revel Score:
ENST00000261799 (MANE Select) 0.640
ENST00000544453 0.640
gnomAD v2:
5:149502705 G / T
gnomAD v3:
5:150123142 G / T
gnomAD v4:
chr5-150123142-G-T
Joint Max Group AF 0.00010251 (AFR)
Genomes Max Group AF 0.00006283 (AFR)
Exomes Max Group AF 0.00009751 (AFR)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000261799.9:c.2083C>A MANE Select ENSP00000261799.4:p.Arg695Ser
ENST00000261799.8:c.2083C>A ENSP00000261799.4:p.Arg695Ser
ENST00000520579.5:c.*1397C>A ENSP00000430026.1:n.*1397C>A
NM_002609.3:c.2083C>A NP_002600.1:p.Arg695Ser
XM_005268464.2:c.1891C>A XP_005268521.1:p.Arg631Ser
XM_011537658.1:c.2083C>A XP_011535960.1:p.Arg695Ser
XM_011537659.1:c.2083C>A XP_011535961.1:p.Arg695Ser
XM_011537660.1:c.2083C>A XP_011535962.1:p.Arg695Ser
NM_001355016.1:c.1891C>A NP_001341945.1:p.Arg631Ser
NM_001355017.1:c.1600C>A NP_001341946.1:p.Arg534Ser
NM_002609.4:c.2083C>A MANE Select NP_002600.1:p.Arg695Ser
NM_001355016.2:c.1891C>A NP_001341945.1:p.Arg631Ser
NM_001355017.2:c.1600C>A NP_001341946.1:p.Arg534Ser
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