Canonical Allele Identifier: CA345962777
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1368337831
gnomAD v2: 2-21260957-T-C
gnomAD v4: 2-21038085-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21038085T>C , CM000664.2:g.21038085T>C GRCh38
NC_000002.11:g.21260957T>C , CM000664.1:g.21260957T>C GRCh37
NC_000002.10:g.21114462T>C NCBI36
NG_011793.1:g.10989A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.384-830A>G ENSP00000501110.2:n.384-830A>G
ENST00000673882.2:c.384-830A>G ENSP00000501253.2:n.384-830A>G
ENST00000673739.1:c.252-830A>G ENSP00000501110.1:n.252-830A>G
ENST00000673882.1:c.252-830A>G ENSP00000501253.1:n.252-830A>G
ENST00000233242.5:c.410A>G MANE Select ENSP00000233242.1:p.Glu137Gly
ENST00000399256.4:c.410A>G ENSP00000382200.4:p.Glu137Gly
ENST00000616098.4:c.410A>G ENSP00000477990.1:p.Glu137Gly
NM_000384.2:c.410A>G NP_000375.2:p.Glu137Gly
XM_011532809.1:c.410A>G XP_011531111.1:p.Glu137Gly
NM_000384.3:c.410A>G MANE Select NP_000375.3:p.Glu137Gly