Canonical Allele Identifier: CA050516
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 925123
dbSNP Id: rs1042031
gnomAD v2: 2-21225753-C-A
gnomAD v4: 2-21002881-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002881C>A , CM000664.2:g.21002881C>A GRCh38
NC_000002.11:g.21225753C>A , CM000664.1:g.21225753C>A GRCh37
NC_000002.10:g.21079258C>A NCBI36
NG_011793.1:g.46193G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000233242.5:c.12541G>T MANE Select ENSP00000233242.1:p.Glu4181Ter
ENST00000616098.4:c.12541G>T ENSP00000477990.1:p.Glu4181Ter
NM_000384.2:c.12541G>T NP_000375.2:p.Glu4181Ter
XM_011532809.1:c.5870-3608G>T XP_011531111.1:n.5870-3608G>T
NM_000384.3:c.12541G>T MANE Select NP_000375.3:p.Glu4181Ter