Canonical Allele Identifier: CA044171
Gene: APOB HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.21006280C>T
GRCh37 chr2:g.21229152C>T
Revel Score:
ENST00000233242 (MANE Select) 0.346
ENST00000535079 0.346
gnomAD v2:
2:21229152 C / T
gnomAD v3:
2:21006280 C / T
gnomAD v4:
chr2-21006280-C-T
Joint Max Group AF 0.00001221 (NFE)
Exomes Max Group AF 0.00001213 (NFE)
ClinVar RCV:
RCV000509355
RCV002527389
ClinVar Variation:
441171
dbSNP:
200184366
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21006280C>T , CM000664.2:g.21006280C>T GRCh38
NC_000002.11:g.21229152C>T , CM000664.1:g.21229152C>T GRCh37
NC_000002.10:g.21082657C>T NCBI36
NG_011793.1:g.42794G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.10588G>A MANE Select ENSP00000233242.1:p.Val3530Met
ENST00000616098.4:c.10588G>A ENSP00000477990.1:p.Val3530Met
NM_000384.2:c.10588G>A NP_000375.2:p.Val3530Met
XM_011532809.1:c.5869+4453G>A XP_011531111.1:n.5869+4453G>A
NM_000384.3:c.10588G>A MANE Select NP_000375.3:p.Val3530Met
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