Canonical Allele Identifier: CA345971033
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2565868
ClinVar RCV Id: RCV003302093
dbSNP Id: rs1663028563
gnomAD v3: 2-21002889-A-C
gnomAD v4: 2-21002889-A-C
MyVariant Identifiers: chr2:g.21225761A>C (hg19) chr2:g.21002889A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002889A>C , CM000664.2:g.21002889A>C GRCh38
NC_000002.11:g.21225761A>C , CM000664.1:g.21225761A>C GRCh37
NC_000002.10:g.21079266A>C NCBI36
NG_011793.1:g.46185T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.12533T>G MANE Select ENSP00000233242.1:p.Val4178Gly
ENST00000616098.4:c.12533T>G ENSP00000477990.1:p.Val4178Gly
NM_000384.2:c.12533T>G NP_000375.2:p.Val4178Gly
XM_011532809.1:c.5870-3616T>G XP_011531111.1:n.5870-3616T>G
NM_000384.3:c.12533T>G MANE Select NP_000375.3:p.Val4178Gly
Search 100 bp 5'
Search 100 bp 3'