Canonical Allele Identifier: CA43487380
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs938535592
gnomAD v3: 2-21001818-A-G
gnomAD v4: 2-21001818-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001818A>G , CM000664.2:g.21001818A>G GRCh38
NC_000002.11:g.21224690A>G , CM000664.1:g.21224690A>G GRCh37
NC_000002.10:g.21078195A>G NCBI36
NG_011793.1:g.47256T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13604T>C MANE Select ENSP00000233242.1:p.Ile4535Thr
ENST00000616098.4:c.13602T>C ENSP00000477990.1:n.13602T>C
NM_000384.2:c.13604T>C NP_000375.2:p.Ile4535Thr
XM_011532809.1:c.5870-2545T>C XP_011531111.1:n.5870-2545T>C
NM_000384.3:c.13604T>C MANE Select NP_000375.3:p.Ile4535Thr