Canonical Allele Identifier: CA042447
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1479593
ClinVar RCV Id: RCV001990989
dbSNP Id: rs138850232
ExAC: 2:21229626 A / C
gnomAD v2: 2-21229626-A-C
gnomAD v3: 2-21006754-A-C
gnomAD v4: 2-21006754-A-C
MyVariant Identifiers: chr2:g.21229626A>C (hg19) chr2:g.21006754A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21006754A>C , CM000664.2:g.21006754A>C GRCh38
NC_000002.11:g.21229626A>C , CM000664.1:g.21229626A>C GRCh37
NC_000002.10:g.21083131A>C NCBI36
NG_011793.1:g.42320T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.10114T>G MANE Select ENSP00000233242.1:p.Ser3372Ala
ENST00000616098.4:c.10114T>G ENSP00000477990.1:p.Ser3372Ala
NM_000384.2:c.10114T>G NP_000375.2:p.Ser3372Ala
XM_011532809.1:c.5869+3979T>G XP_011531111.1:n.5869+3979T>G
NM_000384.3:c.10114T>G MANE Select NP_000375.3:p.Ser3372Ala
Search 100 bp 5'
Search 100 bp 3'