Canonical Allele Identifier: CA052673
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 630236
ClinVar RCV Id: RCV003166055 RCV003106053 RCV003327459
dbSNP Id: rs146661220
ExAC: 2:21224872 C / G
gnomAD v2: 2-21224872-C-G
gnomAD v3: 2-21002000-C-G
gnomAD v4: 2-21002000-C-G
MyVariant Identifiers: chr2:g.21224872C>G (hg19) chr2:g.21002000C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002000C>G , CM000664.2:g.21002000C>G GRCh38
NC_000002.11:g.21224872C>G , CM000664.1:g.21224872C>G GRCh37
NC_000002.10:g.21078377C>G NCBI36
NG_011793.1:g.47074G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13422G>C MANE Select ENSP00000233242.1:p.Gln4474His
ENST00000616098.4:c.13420G>C ENSP00000477990.1:n.13420G>C
NM_000384.2:c.13422G>C NP_000375.2:p.Gln4474His
XM_011532809.1:c.5870-2727G>C XP_011531111.1:n.5870-2727G>C
NM_000384.3:c.13422G>C MANE Select NP_000375.3:p.Gln4474His
Search 100 bp 5'
Search 100 bp 3'