Canonical Allele Identifier: CA053007
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs757136007
ExAC: 2:21224787 A / C
gnomAD v2: 2-21224787-A-C
gnomAD v4: 2-21001915-A-C
MyVariant Identifiers: chr2:g.21224787A>C (hg19) chr2:g.21001915A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001915A>C , CM000664.2:g.21001915A>C GRCh38
NC_000002.11:g.21224787A>C , CM000664.1:g.21224787A>C GRCh37
NC_000002.10:g.21078292A>C NCBI36
NG_011793.1:g.47159T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13507T>G MANE Select ENSP00000233242.1:p.Ser4503Ala
ENST00000616098.4:c.13505T>G ENSP00000477990.1:n.13505T>G
NM_000384.2:c.13507T>G NP_000375.2:p.Ser4503Ala
XM_011532809.1:c.5870-2642T>G XP_011531111.1:n.5870-2642T>G
NM_000384.3:c.13507T>G MANE Select NP_000375.3:p.Ser4503Ala
Search 100 bp 5'
Search 100 bp 3'