Canonical Allele Identifier: CA066875

Gene: APOB

Linked Data

• ClinVar Variation Id: 218452
• ClinVar RCV Id: RCV000202847 ; RCV000229381 ; RCV000250646 ; RCV000771076 ; RCV001094730 ; RCV001837757 ; RCV002381697
• dbSNP Id: rs12720854
• ExAC: 2:21229905 T / C
• gnomAD v2: 2-21229905-T-C
• gnomAD v3: 2-21007033-T-C
• gnomAD v4: 2-21007033-T-C
• MyVariant Identifiers: chr2:g.21229905T>C (hg19) ; chr2:g.21007033T>C (hg38)
• PubMed: PMID:20657596 ; PMID:27765764

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21007033T>C , CM000664.2:g.21007033T>C	GRCh38
NC_000002.11:g.21229905T>C , CM000664.1:g.21229905T>C	GRCh37
NC_000002.10:g.21083410T>C	NCBI36
NG_011793.1:g.42041A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.9835A>G MANE Select	ENSP00000233242.1:p.Ser3279Gly
ENST00000616098.4:c.9835A>G	ENSP00000477990.1:p.Ser3279Gly
NM_000384.2:c.9835A>G	NP_000375.2:p.Ser3279Gly
XM_011532809.1:c.5869+3700A>G	XP_011531111.1:n.5869+3700A>G
NM_000384.3:c.9835A>G MANE Select	NP_000375.3:p.Ser3279Gly