Canonical Allele Identifier: CA062527
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2924830
ClinVar RCV Id: RCV003788532
dbSNP Id: rs181877973
ExAC: 2:21233906 T / C
gnomAD v2: 2-21233906-T-C
gnomAD v3: 2-21011034-T-C
gnomAD v4: 2-21011034-T-C
MyVariant Identifiers: chr2:g.21233906T>C (hg19) chr2:g.21011034T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21011034T>C , CM000664.2:g.21011034T>C GRCh38
NC_000002.11:g.21233906T>C , CM000664.1:g.21233906T>C GRCh37
NC_000002.10:g.21087411T>C NCBI36
NG_011793.1:g.38040A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.5834A>G MANE Select ENSP00000233242.1:p.Asp1945Gly
ENST00000616098.4:c.5834A>G ENSP00000477990.1:p.Asp1945Gly
NM_000384.2:c.5834A>G NP_000375.2:p.Asp1945Gly
XM_011532809.1:c.5834A>G XP_011531111.1:p.Asp1945Gly
NM_000384.3:c.5834A>G MANE Select NP_000375.3:p.Asp1945Gly
Search 100 bp 5'
Search 100 bp 3'