Canonical Allele Identifier: CA042839
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 927807
ClinVar RCV Id: RCV002379737
dbSNP Id: rs750477821
ExAC: 2:21229496 C / G
gnomAD v2: 2-21229496-C-G
gnomAD v4: 2-21006624-C-G
MyVariant Identifiers: chr2:g.21229496C>G (hg19) chr2:g.21006624C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21006624C>G , CM000664.2:g.21006624C>G GRCh38
NC_000002.11:g.21229496C>G , CM000664.1:g.21229496C>G GRCh37
NC_000002.10:g.21083001C>G NCBI36
NG_011793.1:g.42450G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.10244G>C MANE Select ENSP00000233242.1:p.Ser3415Thr
ENST00000616098.4:c.10244G>C ENSP00000477990.1:p.Ser3415Thr
NM_000384.2:c.10244G>C NP_000375.2:p.Ser3415Thr
XM_011532809.1:c.5869+4109G>C XP_011531111.1:n.5869+4109G>C
NM_000384.3:c.10244G>C MANE Select NP_000375.3:p.Ser3415Thr
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