Canonical Allele Identifier: CA425343330
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs758269673
gnomAD v4: 2-21006233-T-C
MyVariant Identifiers: chr2:g.21229105T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21006233T>C , CM000664.2:g.21006233T>C GRCh38
NC_000002.11:g.21229105T>C , CM000664.1:g.21229105T>C GRCh37
NC_000002.10:g.21082610T>C NCBI36
NG_011793.1:g.42841A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.10635A>G MANE Select ENSP00000233242.1:p.Glu3545=
ENST00000616098.4:c.10635A>G ENSP00000477990.1:p.Glu3545=
NM_000384.2:c.10635A>G NP_000375.2:p.Glu3545=
XM_011532809.1:c.5869+4500A>G XP_011531111.1:n.5869+4500A>G
NM_000384.3:c.10635A>G MANE Select NP_000375.3:p.Glu3545=