Canonical Allele Identifier: CA145265

Gene: PDGFB

Linked Data

• ClinVar Variation Id: 75243
• ClinVar RCV Id: RCV000066218 ; RCV003128577
• dbSNP Id: rs397515633
• gnomAD v4: 22-39231633-G-A
• MyVariant Identifiers: chr22:g.39627638G>A (hg19) ; chr22:g.39231633G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.39231633G>A , CM000684.2:g.39231633G>A	GRCh38
NC_000022.10:g.39627638G>A , CM000684.1:g.39627638G>A	GRCh37
NC_000022.9:g.37957584G>A	NCBI36
NG_012111.1:g.18320C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000331163.11:c.445C>T MANE Select	ENSP00000330382.6:p.Arg149Ter
ENST00000331163.10:c.445C>T	ENSP00000330382.6:p.Arg149Ter
ENST00000381551.8:c.400C>T	ENSP00000370963.4:p.Arg134Ter
ENST00000440375.1:c.352C>T	ENSP00000405780.1:p.Arg118Ter
ENST00000455790.5:c.352C>T	ENSP00000402306.1:p.Arg118Ter
NM_002608.2:c.445C>T	NP_002599.1:p.Arg149Ter
NM_002608.3:c.445C>T	NP_002599.1:p.Arg149Ter
NM_033016.2:c.400C>T	NP_148937.1:p.Arg134Ter
NM_033016.3:c.400C>T	NP_148937.1:p.Arg134Ter
NM_002608.4:c.445C>T MANE Select	NP_002599.1:p.Arg149Ter