Canonical Allele Identifier: CA062567
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 548062
dbSNP Id: rs368970025
gnomAD v2: 2-21233877-C-T
gnomAD v3: 2-21011005-C-T
gnomAD v4: 2-21011005-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21011005C>T , CM000664.2:g.21011005C>T GRCh38
NC_000002.11:g.21233877C>T , CM000664.1:g.21233877C>T GRCh37
NC_000002.10:g.21087382C>T NCBI36
NG_011793.1:g.38069G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.5863G>A MANE Select ENSP00000233242.1:p.Val1955Met
ENST00000616098.4:c.5863G>A ENSP00000477990.1:p.Val1955Met
NM_000384.2:c.5863G>A NP_000375.2:p.Val1955Met
XM_011532809.1:c.5863G>A XP_011531111.1:p.Val1955Ile
NM_000384.3:c.5863G>A MANE Select NP_000375.3:p.Val1955Met