Canonical Allele Identifier: CA046627
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 544087
ClinVar RCV Id: RCV000655112 RCV001838036 RCV002458166
dbSNP Id: rs72654408
ExAC: 2:21228298 G / A
gnomAD v2: 2-21228298-G-A
gnomAD v3: 2-21005426-G-A
gnomAD v4: 2-21005426-G-A
MyVariant Identifiers: chr2:g.21228298G>A (hg19) chr2:g.21005426G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21005426G>A , CM000664.2:g.21005426G>A GRCh38
NC_000002.11:g.21228298G>A , CM000664.1:g.21228298G>A GRCh37
NC_000002.10:g.21081803G>A NCBI36
NG_011793.1:g.43648C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.11442C>T MANE Select ENSP00000233242.1:p.Thr3814=
ENST00000616098.4:c.11442C>T ENSP00000477990.1:p.Thr3814=
NM_000384.2:c.11442C>T NP_000375.2:p.Thr3814=
XM_011532809.1:c.5869+5307C>T XP_011531111.1:n.5869+5307C>T
NM_000384.3:c.11442C>T MANE Select NP_000375.3:p.Thr3814=
Search 100 bp 5'
Search 100 bp 3'