Canonical Allele Identifier: CA345966672
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 921025
ClinVar RCV Id: RCV001180167 RCV002483980
dbSNP Id: rs1662980631
gnomAD v4: 2-21001750-C-T
MyVariant Identifiers: chr2:g.21224622C>T (hg19) chr2:g.21001750C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001750C>T , CM000664.2:g.21001750C>T GRCh38
NC_000002.11:g.21224622C>T , CM000664.1:g.21224622C>T GRCh37
NC_000002.10:g.21078127C>T NCBI36
NG_011793.1:g.47324G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13672G>A MANE Select ENSP00000233242.1:p.Glu4558Lys
ENST00000616098.4:c.13670G>A ENSP00000477990.1:n.13670G>A
NM_000384.2:c.13672G>A NP_000375.2:p.Glu4558Lys
XM_011532809.1:c.5870-2477G>A XP_011531111.1:n.5870-2477G>A
NM_000384.3:c.13672G>A MANE Select NP_000375.3:p.Glu4558Lys
Search 100 bp 5'
Search 100 bp 3'