Canonical Allele Identifier: CA1025683944
Gene: PDGFB HGNC NCBI

Linked Data

dbSNP Id: rs1932652315
gnomAD v3: 22-39244714-C-A
gnomAD v4: 22-39244714-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.39244714C>A , CM000684.2:g.39244714C>A GRCh38
NC_000022.10:g.39640719C>A , CM000684.1:g.39640719C>A GRCh37
NC_000022.9:g.37970665C>A NCBI36
NG_012111.1:g.5239G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331163.11:c.-751G>T MANE Select ENSP00000330382.6:n.-751G>T
ENST00000331163.10:c.-751G>T ENSP00000330382.6:n.-751G>T
NM_002608.2:c.-751G>T NP_002599.1:n.-751G>T
NM_002608.3:c.-751G>T NP_002599.1:n.-751G>T
NM_002608.4:c.-751G>T MANE Select NP_002599.1:n.-751G>T
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