Canonical Allele Identifier: CA324369789

Gene: PDGFB

Linked Data

• dbSNP Id: rs947848848
• gnomAD v2: 22-39640745-G-C
• gnomAD v3: 22-39244740-G-C
• gnomAD v4: 22-39244740-G-C
• MyVariant Identifiers: chr22:g.39640745G>C (hg19) ; chr22:g.39244740G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.39244740G>C , CM000684.2:g.39244740G>C	GRCh38
NC_000022.10:g.39640745G>C , CM000684.1:g.39640745G>C	GRCh37
NC_000022.9:g.37970691G>C	NCBI36
NG_012111.1:g.5213C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331163.11:c.-777C>G MANE Select	ENSP00000330382.6:n.-777C>G
ENST00000331163.10:c.-777C>G	ENSP00000330382.6:n.-777C>G
NM_002608.2:c.-777C>G	NP_002599.1:n.-777C>G
NM_002608.3:c.-777C>G	NP_002599.1:n.-777C>G
NM_002608.4:c.-777C>G MANE Select	NP_002599.1:n.-777C>G