Canonical Allele Identifier: CA066985
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 544097
ClinVar RCV Id: RCV001838045 RCV001335284 RCV001584512
dbSNP Id: rs146687604
ExAC: 2:21229803 G / T
gnomAD v2: 2-21229803-G-T
gnomAD v3: 2-21006931-G-T
gnomAD v4: 2-21006931-G-T
MyVariant Identifiers: chr2:g.21229803G>T (hg19) chr2:g.21006931G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21006931G>T , CM000664.2:g.21006931G>T GRCh38
NC_000002.11:g.21229803G>T , CM000664.1:g.21229803G>T GRCh37
NC_000002.10:g.21083308G>T NCBI36
NG_011793.1:g.42143C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9937C>A MANE Select ENSP00000233242.1:p.Leu3313Ile
ENST00000616098.4:c.9937C>A ENSP00000477990.1:p.Leu3313Ile
NM_000384.2:c.9937C>A NP_000375.2:p.Leu3313Ile
XM_011532809.1:c.5869+3802C>A XP_011531111.1:n.5869+3802C>A
NM_000384.3:c.9937C>A MANE Select NP_000375.3:p.Leu3313Ile
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