Canonical Allele Identifier: CA346002305
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1456035079
gnomAD v2: 2-21233532-T-C
gnomAD v4: 2-21010660-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010660T>C , CM000664.2:g.21010660T>C GRCh38
NC_000002.11:g.21233532T>C , CM000664.1:g.21233532T>C GRCh37
NC_000002.10:g.21087037T>C NCBI36
NG_011793.1:g.38414A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6208A>G MANE Select ENSP00000233242.1:p.Asn2070Asp
ENST00000616098.4:c.6208A>G ENSP00000477990.1:p.Asn2070Asp
NM_000384.2:c.6208A>G NP_000375.2:p.Asn2070Asp
XM_011532809.1:c.5869+73A>G XP_011531111.1:n.5869+73A>G
NM_000384.3:c.6208A>G MANE Select NP_000375.3:p.Asn2070Asp