Canonical Allele Identifier: CA345990627
Gene: APOB HGNC NCBI

Linked Data

COSMIC: COSM1245222
MyVariant Identifiers: chr2:g.21230450T>G (hg19) chr2:g.21007578T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21007578T>G , CM000664.2:g.21007578T>G GRCh38
NC_000002.11:g.21230450T>G , CM000664.1:g.21230450T>G GRCh37
NC_000002.10:g.21083955T>G NCBI36
NG_011793.1:g.41496A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000233242.5:c.9290A>C MANE Select ENSP00000233242.1:p.Lys3097Thr
ENST00000616098.4:c.9290A>C ENSP00000477990.1:p.Lys3097Thr
NM_000384.2:c.9290A>C NP_000375.2:p.Lys3097Thr
XM_011532809.1:c.5869+3155A>C XP_011531111.1:n.5869+3155A>C
NM_000384.3:c.9290A>C MANE Select NP_000375.3:p.Lys3097Thr
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