Canonical Allele Identifier: CA066875
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 218452
dbSNP Id: rs12720854
gnomAD v2: 2-21229905-T-C
gnomAD v3: 2-21007033-T-C
gnomAD v4: 2-21007033-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21007033T>C , CM000664.2:g.21007033T>C GRCh38
NC_000002.11:g.21229905T>C , CM000664.1:g.21229905T>C GRCh37
NC_000002.10:g.21083410T>C NCBI36
NG_011793.1:g.42041A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9835A>G MANE Select ENSP00000233242.1:p.Ser3279Gly
ENST00000616098.4:c.9835A>G ENSP00000477990.1:p.Ser3279Gly
NM_000384.2:c.9835A>G NP_000375.2:p.Ser3279Gly
XM_011532809.1:c.5869+3700A>G XP_011531111.1:n.5869+3700A>G
NM_000384.3:c.9835A>G MANE Select NP_000375.3:p.Ser3279Gly