Canonical Allele Identifier: CA050477
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1761173
ClinVar RCV Id: RCV002416677
dbSNP Id: rs771559921
ExAC: 2:21225760 A / G
gnomAD v2: 2-21225760-A-G
gnomAD v3: 2-21002888-A-G
gnomAD v4: 2-21002888-A-G
MyVariant Identifiers: chr2:g.21225760A>G (hg19) chr2:g.21002888A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002888A>G , CM000664.2:g.21002888A>G GRCh38
NC_000002.11:g.21225760A>G , CM000664.1:g.21225760A>G GRCh37
NC_000002.10:g.21079265A>G NCBI36
NG_011793.1:g.46186T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.12534T>C MANE Select ENSP00000233242.1:p.Val4178=
ENST00000616098.4:c.12534T>C ENSP00000477990.1:p.Val4178=
NM_000384.2:c.12534T>C NP_000375.2:p.Val4178=
XM_011532809.1:c.5870-3615T>C XP_011531111.1:n.5870-3615T>C
NM_000384.3:c.12534T>C MANE Select NP_000375.3:p.Val4178=
Search 100 bp 5'
Search 100 bp 3'