Canonical Allele Identifier: CA050490
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 544066
ClinVar RCV Id: RCV001141613 RCV001838015 RCV001141614 RCV002422435
dbSNP Id: rs370180297
ExAC: 2:21225758 G / A
gnomAD v2: 2-21225758-G-A
gnomAD v3: 2-21002886-G-A
gnomAD v4: 2-21002886-G-A
MyVariant Identifiers: chr2:g.21225758G>A (hg19) chr2:g.21002886G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002886G>A , CM000664.2:g.21002886G>A GRCh38
NC_000002.11:g.21225758G>A , CM000664.1:g.21225758G>A GRCh37
NC_000002.10:g.21079263G>A NCBI36
NG_011793.1:g.46188C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.12536C>T MANE Select ENSP00000233242.1:p.Thr4179Ile
ENST00000616098.4:c.12536C>T ENSP00000477990.1:p.Thr4179Ile
NM_000384.2:c.12536C>T NP_000375.2:p.Thr4179Ile
XM_011532809.1:c.5870-3613C>T XP_011531111.1:n.5870-3613C>T
NM_000384.3:c.12536C>T MANE Select NP_000375.3:p.Thr4179Ile
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