Canonical Allele Identifier: CA211315
Gene: PDGFRB HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.150123142G>A
GRCh37 chr5:g.149502705G>A
Revel Score:
ENST00000261799 (MANE Select) 0.913
ENST00000544453 0.913
gnomAD v2:
5:149502705 G / A
gnomAD v3:
5:150123142 G / A
gnomAD v4:
chr5-150123142-G-A
Joint Max Group AF 0.0002384 (NFE)
Genomes Max Group AF 0.00009048 (NFE)
Exomes Max Group AF 0.00024359 (NFE)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000261799.9:c.2083C>T MANE Select ENSP00000261799.4:p.Arg695Cys
ENST00000261799.8:c.2083C>T ENSP00000261799.4:p.Arg695Cys
ENST00000520579.5:c.*1397C>T ENSP00000430026.1:n.*1397C>T
NM_002609.3:c.2083C>T NP_002600.1:p.Arg695Cys
XM_005268464.2:c.1891C>T XP_005268521.1:p.Arg631Cys
XM_011537658.1:c.2083C>T XP_011535960.1:p.Arg695Cys
XM_011537659.1:c.2083C>T XP_011535961.1:p.Arg695Cys
XM_011537660.1:c.2083C>T XP_011535962.1:p.Arg695Cys
NM_001355016.1:c.1891C>T NP_001341945.1:p.Arg631Cys
NM_001355017.1:c.1600C>T NP_001341946.1:p.Arg534Cys
NM_002609.4:c.2083C>T MANE Select NP_002600.1:p.Arg695Cys
NM_001355016.2:c.1891C>T NP_001341945.1:p.Arg631Cys
NM_001355017.2:c.1600C>T NP_001341946.1:p.Arg534Cys
Search 100 bp 5'
Search 100 bp 3'