Canonical Allele Identifier: CA345977639
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1572777188
gnomAD v3: 2-21005163-A-C
gnomAD v4: 2-21005163-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21005163A>C , CM000664.2:g.21005163A>C GRCh38
NC_000002.11:g.21228035A>C , CM000664.1:g.21228035A>C GRCh37
NC_000002.10:g.21081540A>C NCBI36
NG_011793.1:g.43911T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000233242.5:c.11705T>G MANE Select ENSP00000233242.1:p.Leu3902Trp
ENST00000616098.4:c.11705T>G ENSP00000477990.1:p.Leu3902Trp
NM_000384.2:c.11705T>G NP_000375.2:p.Leu3902Trp
XM_011532809.1:c.5869+5570T>G XP_011531111.1:n.5869+5570T>G
NM_000384.3:c.11705T>G MANE Select NP_000375.3:p.Leu3902Trp