Canonical Allele Identifier: CA346003504
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21010863-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010863T>C , CM000664.2:g.21010863T>C GRCh38
NC_000002.11:g.21233735T>C , CM000664.1:g.21233735T>C GRCh37
NC_000002.10:g.21087240T>C NCBI36
NG_011793.1:g.38211A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6005A>G MANE Select ENSP00000233242.1:p.Lys2002Arg
ENST00000616098.4:c.6005A>G ENSP00000477990.1:p.Lys2002Arg
NM_000384.2:c.6005A>G NP_000375.2:p.Lys2002Arg
XM_011532809.1:c.5865-126A>G XP_011531111.1:n.5865-126A>G
NM_000384.3:c.6005A>G MANE Select NP_000375.3:p.Lys2002Arg