Canonical Allele Identifier: CA052493
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs762982664
gnomAD v2: 2-21224960-T-C
gnomAD v4: 2-21002088-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002088T>C , CM000664.2:g.21002088T>C GRCh38
NC_000002.11:g.21224960T>C , CM000664.1:g.21224960T>C GRCh37
NC_000002.10:g.21078465T>C NCBI36
NG_011793.1:g.46986A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13334A>G MANE Select ENSP00000233242.1:p.His4445Arg
ENST00000616098.4:c.13332A>G ENSP00000477990.1:n.13332A>G
NM_000384.2:c.13334A>G NP_000375.2:p.His4445Arg
XM_011532809.1:c.5870-2815A>G XP_011531111.1:n.5870-2815A>G
NM_000384.3:c.13334A>G MANE Select NP_000375.3:p.His4445Arg