Canonical Allele Identifier: CA053453
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 919908
ClinVar RCV Id: RCV001178365 RCV002067888 RCV004033021
dbSNP Id: rs146687572
ExAC: 2:21224624 C / G
gnomAD v2: 2-21224624-C-G
gnomAD v3: 2-21001752-C-G
gnomAD v4: 2-21001752-C-G
MyVariant Identifiers: chr2:g.21224624C>G (hg19) chr2:g.21001752C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001752C>G , CM000664.2:g.21001752C>G GRCh38
NC_000002.11:g.21224624C>G , CM000664.1:g.21224624C>G GRCh37
NC_000002.10:g.21078129C>G NCBI36
NG_011793.1:g.47322G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13670G>C MANE Select ENSP00000233242.1:p.Gly4557Ala
ENST00000616098.4:c.13668G>C ENSP00000477990.1:n.13668G>C
NM_000384.2:c.13670G>C NP_000375.2:p.Gly4557Ala
XM_011532809.1:c.5870-2479G>C XP_011531111.1:n.5870-2479G>C
NM_000384.3:c.13670G>C MANE Select NP_000375.3:p.Gly4557Ala
Search 100 bp 5'
Search 100 bp 3'