Canonical Allele Identifier: CA324369800

Gene: PDGFB

Linked Data

• dbSNP Id: rs747326350
• gnomAD v2: 22-39640801-G-A
• gnomAD v3: 22-39244796-G-A
• gnomAD v4: 22-39244796-G-A
• MyVariant Identifiers: chr22:g.39640801G>A (hg19) ; chr22:g.39244796G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.39244796G>A , CM000684.2:g.39244796G>A	GRCh38
NC_000022.10:g.39640801G>A , CM000684.1:g.39640801G>A	GRCh37
NC_000022.9:g.37970747G>A	NCBI36
NG_012111.1:g.5157C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331163.11:c.-833C>T MANE Select	ENSP00000330382.6:n.-833C>T
NM_002608.2:c.-833C>T	NP_002599.1:n.-833C>T
NM_002608.3:c.-833C>T	NP_002599.1:n.-833C>T
NM_002608.4:c.-833C>T MANE Select	NP_002599.1:n.-833C>T