Canonical Allele Identifier: CA066895
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs764254376
gnomAD v2: 2-21229893-A-G
gnomAD v4: 2-21007021-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21007021A>G , CM000664.2:g.21007021A>G GRCh38
NC_000002.11:g.21229893A>G , CM000664.1:g.21229893A>G GRCh37
NC_000002.10:g.21083398A>G NCBI36
NG_011793.1:g.42053T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9847T>C MANE Select ENSP00000233242.1:p.Phe3283Leu
ENST00000616098.4:c.9847T>C ENSP00000477990.1:p.Phe3283Leu
NM_000384.2:c.9847T>C NP_000375.2:p.Phe3283Leu
XM_011532809.1:c.5869+3712T>C XP_011531111.1:n.5869+3712T>C
NM_000384.3:c.9847T>C MANE Select NP_000375.3:p.Phe3283Leu