Canonical Allele Identifier: CA346003876
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs181877973
gnomAD v2: 2-21233906-T-A
gnomAD v3: 2-21011034-T-A
gnomAD v4: 2-21011034-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21011034T>A , CM000664.2:g.21011034T>A GRCh38
NC_000002.11:g.21233906T>A , CM000664.1:g.21233906T>A GRCh37
NC_000002.10:g.21087411T>A NCBI36
NG_011793.1:g.38040A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.5834A>T MANE Select ENSP00000233242.1:p.Asp1945Val
ENST00000616098.4:c.5834A>T ENSP00000477990.1:p.Asp1945Val
NM_000384.2:c.5834A>T NP_000375.2:p.Asp1945Val
XM_011532809.1:c.5834A>T XP_011531111.1:p.Asp1945Val
NM_000384.3:c.5834A>T MANE Select NP_000375.3:p.Asp1945Val