Canonical Allele Identifier: CA046521
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2925315
ClinVar RCV Id: RCV003780969
dbSNP Id: rs376032650
ExAC: 2:21228340 A / C
gnomAD v2: 2-21228340-A-C
gnomAD v3: 2-21005468-A-C
gnomAD v4: 2-21005468-A-C
MyVariant Identifiers: chr2:g.21228340A>C (hg19) chr2:g.21005468A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21005468A>C , CM000664.2:g.21005468A>C GRCh38
NC_000002.11:g.21228340A>C , CM000664.1:g.21228340A>C GRCh37
NC_000002.10:g.21081845A>C NCBI36
NG_011793.1:g.43606T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.11400T>G MANE Select ENSP00000233242.1:p.Tyr3800Ter
ENST00000616098.4:c.11400T>G ENSP00000477990.1:p.Tyr3800Ter
NM_000384.2:c.11400T>G NP_000375.2:p.Tyr3800Ter
XM_011532809.1:c.5869+5265T>G XP_011531111.1:n.5869+5265T>G
NM_000384.3:c.11400T>G MANE Select NP_000375.3:p.Tyr3800Ter
Search 100 bp 5'
Search 100 bp 3'