Canonical Allele Identifier: CA345988631
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1768328
ClinVar RCV Id: RCV002376851
dbSNP Id: rs1572779374
MyVariant Identifiers: chr2:g.21229916G>A (hg19) chr2:g.21007044G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21007044G>A , CM000664.2:g.21007044G>A GRCh38
NC_000002.11:g.21229916G>A , CM000664.1:g.21229916G>A GRCh37
NC_000002.10:g.21083421G>A NCBI36
NG_011793.1:g.42030C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9824C>T MANE Select ENSP00000233242.1:p.Pro3275Leu
ENST00000616098.4:c.9824C>T ENSP00000477990.1:p.Pro3275Leu
NM_000384.2:c.9824C>T NP_000375.2:p.Pro3275Leu
XM_011532809.1:c.5869+3689C>T XP_011531111.1:n.5869+3689C>T
NM_000384.3:c.9824C>T MANE Select NP_000375.3:p.Pro3275Leu
Search 100 bp 5'
Search 100 bp 3'