Canonical Allele Identifier: CA066859
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 477823
ClinVar RCV Id: RCV001837993 RCV001284272 RCV002384272
dbSNP Id: rs138010392
ExAC: 2:21229930 G / A
gnomAD v2: 2-21229930-G-A
gnomAD v3: 2-21007058-G-A
gnomAD v4: 2-21007058-G-A
COSMIC: COSM182925
MyVariant Identifiers: chr2:g.21229930G>A (hg19) chr2:g.21007058G>A (hg38)
PubMed: PMID:25363768
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21007058G>A , CM000664.2:g.21007058G>A GRCh38
NC_000002.11:g.21229930G>A , CM000664.1:g.21229930G>A GRCh37
NC_000002.10:g.21083435G>A NCBI36
NG_011793.1:g.42016C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9810C>T MANE Select ENSP00000233242.1:p.Phe3270=
ENST00000616098.4:c.9810C>T ENSP00000477990.1:p.Phe3270=
NM_000384.2:c.9810C>T NP_000375.2:p.Phe3270=
XM_011532809.1:c.5869+3675C>T XP_011531111.1:n.5869+3675C>T
NM_000384.3:c.9810C>T MANE Select NP_000375.3:p.Phe3270=
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