Canonical Allele Identifier: CA022792
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 128419
ClinVar RCV Id: RCV000116383 RCV000203110 RCV000771061 RCV001094658 RCV001837454 RCV002381423 RCV003477497
dbSNP Id: rs1801695
ExAC: 2:21224853 C / T
gnomAD v2: 2-21224853-C-T
gnomAD v3: 2-21001981-C-T
gnomAD v4: 2-21001981-C-T
MyVariant Identifiers: chr2:g.21224853C>T (hg19) chr2:g.21001981C>T (hg38)
PubMed: PMID:8960785 PMID:21408211
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001981C>T , CM000664.2:g.21001981C>T GRCh38
NC_000002.11:g.21224853C>T , CM000664.1:g.21224853C>T GRCh37
NC_000002.10:g.21078358C>T NCBI36
NG_011793.1:g.47093G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13441G>A MANE Select ENSP00000233242.1:p.Ala4481Thr
ENST00000616098.4:c.13439G>A ENSP00000477990.1:n.13439G>A
NM_000384.2:c.13441G>A NP_000375.2:p.Ala4481Thr
XM_011532809.1:c.5870-2708G>A XP_011531111.1:n.5870-2708G>A
NM_000384.3:c.13441G>A MANE Select NP_000375.3:p.Ala4481Thr
Search 100 bp 5'
Search 100 bp 3'