Canonical Allele Identifier: CA066667
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs780210945
ExAC: 2:21230189 T / A
gnomAD v2: 2-21230189-T-A
gnomAD v4: 2-21007317-T-A
MyVariant Identifiers: chr2:g.21230189T>A (hg19) chr2:g.21007317T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21007317T>A , CM000664.2:g.21007317T>A GRCh38
NC_000002.11:g.21230189T>A , CM000664.1:g.21230189T>A GRCh37
NC_000002.10:g.21083694T>A NCBI36
NG_011793.1:g.41757A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000233242.5:c.9551A>T MANE Select ENSP00000233242.1:p.His3184Leu
ENST00000616098.4:c.9551A>T ENSP00000477990.1:p.His3184Leu
NM_000384.2:c.9551A>T NP_000375.2:p.His3184Leu
XM_011532809.1:c.5869+3416A>T XP_011531111.1:n.5869+3416A>T
NM_000384.3:c.9551A>T MANE Select NP_000375.3:p.His3184Leu
Search 100 bp 5'
Search 100 bp 3'