Canonical Allele Identifier: CA022754
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 17897
ClinVar RCV Id: RCV001837440 RCV002408470
dbSNP Id: rs12713559
ExAC: 2:21229068 G / A
gnomAD v2: 2-21229068-G-A
gnomAD v3: 2-21006196-G-A
gnomAD v4: 2-21006196-G-A
COSMIC: COSM1565114
MyVariant Identifiers: chr2:g.21229068G>A (hg19) chr2:g.21006196G>A (hg38)
PubMed: PMID:7883971 PMID:9105560 PMID:9603795 PMID:9925662 PMID:11031227 PMID:15797858 PMID:17046772 PMID:17160438 PMID:17588943 PMID:17595251 PMID:17968143 PMID:18022922 PMID:18028451 PMID:18160469 PMID:18222178 PMID:18258526 PMID:18279815 PMID:18325181 PMID:18355452 PMID:23375686 PMID:24404629 PMID:24607922 PMID:26332594
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21006196G>A , CM000664.2:g.21006196G>A GRCh38
NC_000002.11:g.21229068G>A , CM000664.1:g.21229068G>A GRCh37
NC_000002.10:g.21082573G>A NCBI36
NG_011793.1:g.42878C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000233242.5:c.10672C>T MANE Select ENSP00000233242.1:p.Arg3558Cys
ENST00000616098.4:c.10672C>T ENSP00000477990.1:p.Arg3558Cys
NM_000384.2:c.10672C>T NP_000375.2:p.Arg3558Cys
XM_011532809.1:c.5869+4537C>T XP_011531111.1:n.5869+4537C>T
NM_000384.3:c.10672C>T MANE Select NP_000375.3:p.Arg3558Cys
Search 100 bp 5'
Search 100 bp 3'