Canonical Allele Identifier: CA066958
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2451322
ClinVar RCV Id: RCV003182338
dbSNP Id: rs757750438
ExAC: 2:21229817 T / G
gnomAD v2: 2-21229817-T-G
gnomAD v3: 2-21006945-T-G
gnomAD v4: 2-21006945-T-G
MyVariant Identifiers: chr2:g.21229817T>G (hg19) chr2:g.21006945T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21006945T>G , CM000664.2:g.21006945T>G GRCh38
NC_000002.11:g.21229817T>G , CM000664.1:g.21229817T>G GRCh37
NC_000002.10:g.21083322T>G NCBI36
NG_011793.1:g.42129A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9923A>C MANE Select ENSP00000233242.1:p.His3308Pro
ENST00000616098.4:c.9923A>C ENSP00000477990.1:p.His3308Pro
NM_000384.2:c.9923A>C NP_000375.2:p.His3308Pro
XM_011532809.1:c.5869+3788A>C XP_011531111.1:n.5869+3788A>C
NM_000384.3:c.9923A>C MANE Select NP_000375.3:p.His3308Pro
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