Canonical Allele Identifier: CA345970605
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1493094
ClinVar RCV Id: RCV001984110
dbSNP Id: rs2103347505
gnomAD v4: 2-21002692-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002692A>G , CM000664.2:g.21002692A>G GRCh38
NC_000002.11:g.21225564A>G , CM000664.1:g.21225564A>G GRCh37
NC_000002.10:g.21079069A>G NCBI36
NG_011793.1:g.46382T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.12730T>C MANE Select ENSP00000233242.1:p.Ser4244Pro
ENST00000616098.4:c.12730T>C ENSP00000477990.1:p.Ser4244Pro
NM_000384.2:c.12730T>C NP_000375.2:p.Ser4244Pro
XM_011532809.1:c.5870-3419T>C XP_011531111.1:n.5870-3419T>C
NM_000384.3:c.12730T>C MANE Select NP_000375.3:p.Ser4244Pro