Canonical Allele Identifier: CA345997197
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1272417513
gnomAD v3: 2-21009448-T-C
gnomAD v4: 2-21009448-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009448T>C , CM000664.2:g.21009448T>C GRCh38
NC_000002.11:g.21232320T>C , CM000664.1:g.21232320T>C GRCh37
NC_000002.10:g.21085825T>C NCBI36
NG_011793.1:g.39626A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7420A>G MANE Select ENSP00000233242.1:p.Lys2474Glu
ENST00000616098.4:c.7420A>G ENSP00000477990.1:p.Lys2474Glu
NM_000384.2:c.7420A>G NP_000375.2:p.Lys2474Glu
XM_011532809.1:c.5869+1285A>G XP_011531111.1:n.5869+1285A>G
NM_000384.3:c.7420A>G MANE Select NP_000375.3:p.Lys2474Glu