Canonical Allele Identifier: CA066901
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 490405
ClinVar RCV Id: RCV000581291 RCV000600451 RCV001531477 RCV001838005 RCV002384278
dbSNP Id: rs72654403
ExAC: 2:21229885 G / A
gnomAD v2: 2-21229885-G-A
gnomAD v3: 2-21007013-G-A
gnomAD v4: 2-21007013-G-A
MyVariant Identifiers: chr2:g.21229885G>A (hg19) chr2:g.21007013G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21007013G>A , CM000664.2:g.21007013G>A GRCh38
NC_000002.11:g.21229885G>A , CM000664.1:g.21229885G>A GRCh37
NC_000002.10:g.21083390G>A NCBI36
NG_011793.1:g.42061C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9855C>T MANE Select ENSP00000233242.1:p.Ile3285=
ENST00000616098.4:c.9855C>T ENSP00000477990.1:p.Ile3285=
NM_000384.2:c.9855C>T NP_000375.2:p.Ile3285=
XM_011532809.1:c.5869+3720C>T XP_011531111.1:n.5869+3720C>T
NM_000384.3:c.9855C>T MANE Select NP_000375.3:p.Ile3285=
Search 100 bp 5'
Search 100 bp 3'