Canonical Allele Identifier: CA9903391
Gene: PTGIS HGNC NCBI
COSMIC:
COSM6351522 (not active)
MyVariant.info:
GRCh38 chr20:g.49513169G>T
GRCh37 chr20:g.48129706G>T
gnomAD v2:
20:48129706 G / T
gnomAD v3:
20:49513169 G / T
gnomAD v4:
chr20-49513169-G-T
Joint Max Group AF 0.34995949 (MID)
Genomes Max Group AF 0.29559251 (AMR)
Exomes Max Group AF 0.35093841 (MID)
ClinVar RCV:
RCV003982397
ClinVar Variation:
3060885
dbSNP:
5629
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49513169G>T , CM000682.2:g.49513169G>T GRCh38
NC_000020.10:g.48129706G>T , CM000682.1:g.48129706G>T GRCh37
NC_000020.9:g.47563113G>T NCBI36
NG_007940.1:g.60002C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000244043.5:c.1117C>A MANE Select ENSP00000244043.3:p.Arg373=
ENST00000244043.4:c.1117C>A ENSP00000244043.3:p.Arg373=
ENST00000478971.1:n.938C>A
NM_000961.3:c.1117C>A NP_000952.1:p.Arg373=
NM_000961.4:c.1117C>A MANE Select NP_000952.1:p.Arg373=
Search 100 bp 5'
Search 100 bp 3'