Canonical Allele Identifier: CA324369776
Gene: PDGFB HGNC NCBI

Linked Data

dbSNP Id: rs1053839510
gnomAD v3: 22-39244718-C-T
gnomAD v4: 22-39244718-C-T
MyVariant Identifiers: chr22:g.39640723C>T (hg19) chr22:g.39244718C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.39244718C>T , CM000684.2:g.39244718C>T GRCh38
NC_000022.10:g.39640723C>T , CM000684.1:g.39640723C>T GRCh37
NC_000022.9:g.37970669C>T NCBI36
NG_012111.1:g.5235G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331163.11:c.-755G>A MANE Select ENSP00000330382.6:n.-755G>A
ENST00000331163.10:c.-755G>A ENSP00000330382.6:n.-755G>A
NM_002608.2:c.-755G>A NP_002599.1:n.-755G>A
NM_002608.3:c.-755G>A NP_002599.1:n.-755G>A
NM_002608.4:c.-755G>A MANE Select NP_002599.1:n.-755G>A
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