Canonical Allele Identifier: CA345989505
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1434021384
gnomAD v2: 2-21230184-T-C
gnomAD v4: 2-21007312-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21007312T>C , CM000664.2:g.21007312T>C GRCh38
NC_000002.11:g.21230184T>C , CM000664.1:g.21230184T>C GRCh37
NC_000002.10:g.21083689T>C NCBI36
NG_011793.1:g.41762A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9556A>G MANE Select ENSP00000233242.1:p.Ile3186Val
ENST00000616098.4:c.9556A>G ENSP00000477990.1:p.Ile3186Val
NM_000384.2:c.9556A>G NP_000375.2:p.Ile3186Val
XM_011532809.1:c.5869+3421A>G XP_011531111.1:n.5869+3421A>G
NM_000384.3:c.9556A>G MANE Select NP_000375.3:p.Ile3186Val