Canonical Allele Identifier: CA345967297
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1026267
dbSNP Id: rs751629013
gnomAD v3: 2-21001933-A-C
gnomAD v4: 2-21001933-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001933A>C , CM000664.2:g.21001933A>C GRCh38
NC_000002.11:g.21224805A>C , CM000664.1:g.21224805A>C GRCh37
NC_000002.10:g.21078310A>C NCBI36
NG_011793.1:g.47141T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13489T>G MANE Select ENSP00000233242.1:p.Tyr4497Asp
ENST00000616098.4:c.13487T>G ENSP00000477990.1:n.13487T>G
NM_000384.2:c.13489T>G NP_000375.2:p.Tyr4497Asp
XM_011532809.1:c.5870-2660T>G XP_011531111.1:n.5870-2660T>G
NM_000384.3:c.13489T>G MANE Select NP_000375.3:p.Tyr4497Asp