Canonical Allele Identifier: CA2405204960
Gene: PDGFB HGNC NCBI

Linked Data

dbSNP Id: rs1932654527
gnomAD v4: 22-39244751-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.39244751C>T , CM000684.2:g.39244751C>T GRCh38
NC_000022.10:g.39640756C>T , CM000684.1:g.39640756C>T GRCh37
NC_000022.9:g.37970702C>T NCBI36
NG_012111.1:g.5202G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331163.11:c.-788G>A MANE Select ENSP00000330382.6:n.-788G>A
ENST00000331163.10:c.-788G>A ENSP00000330382.6:n.-788G>A
NM_002608.2:c.-788G>A NP_002599.1:n.-788G>A
NM_002608.3:c.-788G>A NP_002599.1:n.-788G>A
NM_002608.4:c.-788G>A MANE Select NP_002599.1:n.-788G>A
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