Canonical Allele Identifier: CA022754
Gene: APOB HGNC NCBI
ClinVar RCV:
RCV000019486
RCV000219069
RCV000412657
RCV000587550
RCV001837440
RCV002408470
ClinVar Variation:
17897
COSMIC:
COSM1565114
dbSNP:
12713559
gnomAD v2:
2:21229068 G / A
gnomAD v3:
2:21006196 G / A
gnomAD v4:
chr2-21006196-G-A
Joint Max Group AF 0.00083432 (NFE)
Genomes Max Group AF 0.00047811 (AFR)
Exomes Max Group AF 0.00085298 (NFE)
MyVariant.info:
GRCh38 chr2:g.21006196G>A
GRCh37 chr2:g.21229068G>A
Revel Score:
ENST00000233242 (MANE Select) 0.792
ENST00000535079 0.792
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21006196G>A , CM000664.2:g.21006196G>A GRCh38
NC_000002.11:g.21229068G>A , CM000664.1:g.21229068G>A GRCh37
NC_000002.10:g.21082573G>A NCBI36
NG_011793.1:g.42878C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.10672C>T MANE Select ENSP00000233242.1:p.Arg3558Cys
ENST00000616098.4:c.10672C>T ENSP00000477990.1:p.Arg3558Cys
NM_000384.2:c.10672C>T NP_000375.2:p.Arg3558Cys
XM_011532809.1:c.5869+4537C>T XP_011531111.1:n.5869+4537C>T
NM_000384.3:c.10672C>T MANE Select NP_000375.3:p.Arg3558Cys
Search 100 bp 5'
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