Canonical Allele Identifier: CA174110
Gene: OR1S2 HGNC NCBI

Linked Data

ClinVar Variation Id: 161479
ClinVar RCV Id: RCV000149013
dbSNP Id: rs193921006
gnomAD v2: 11-57971152-T-C
gnomAD v3: 11-58203680-T-C
gnomAD v4: 11-58203680-T-C
COSMIC: COSM1178808
MyVariant Identifiers: chr11:g.57971152T>C (hg19) chr11:g.58203680T>C (hg38)
PubMed: PMID:23265383
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.58203680T>C , CM000673.2:g.58203680T>C GRCh38
NC_000011.9:g.57971152T>C , CM000673.1:g.57971152T>C GRCh37
NC_000011.8:g.57727728T>C NCBI36
NG_053130.1:g.5502A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000641683.2:c.463A>G MANE Select ENSP00000493223.1:p.Ile155Val
ENST00000302592.7:c.502A>G ENSP00000305469.6:p.Ile168Val
ENST00000641683.1:c.463A>G ENSP00000493223.1:p.Ile155Val
ENST00000302592.6:c.502A>G ENSP00000305469.6:p.Ile168Val
NM_001004459.1:c.502A>G NP_001004459.1:p.Ile168Val
NM_001004459.2:c.463A>G MANE Select NP_001004459.2:p.Ile155Val
Search 100 bp 5'
Search 100 bp 3'