Canonical Allele Identifier: CA43497196
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs866570611
MyVariant Identifiers: chr2:g.21230185G>A (hg19) chr2:g.21007313G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21007313G>A , CM000664.2:g.21007313G>A GRCh38
NC_000002.11:g.21230185G>A , CM000664.1:g.21230185G>A GRCh37
NC_000002.10:g.21083690G>A NCBI36
NG_011793.1:g.41761C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9555C>T MANE Select ENSP00000233242.1:p.Ser3185=
ENST00000616098.4:c.9555C>T ENSP00000477990.1:p.Ser3185=
NM_000384.2:c.9555C>T NP_000375.2:p.Ser3185=
XM_011532809.1:c.5869+3420C>T XP_011531111.1:n.5869+3420C>T
NM_000384.3:c.9555C>T MANE Select NP_000375.3:p.Ser3185=
Search 100 bp 5'
Search 100 bp 3'