Canonical Allele Identifier: CA14703979
Gene: PTGIR HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.46620526A>G
GRCh37 chr19:g.47123783A>G
gnomAD v2:
19:47123783 A / G
gnomAD v3:
19:46620526 A / G
gnomAD v4:
chr19-46620526-A-G
Joint Max Group AF 0.38747466 (MID)
Genomes Max Group AF 0.35540217 (SAS)
Exomes Max Group AF 0.38356704 (SAS)
dbSNP:
1126510
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.46620526A>G , CM000681.2:g.46620526A>G GRCh38
NC_000019.9:g.47123783A>G , CM000681.1:g.47123783A>G GRCh37
NC_000019.8:g.51815623A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000291294.7:c.*754T>C MANE Select ENSP00000291294.1:n.*754T>C
ENST00000291294.6:c.*754T>C ENSP00000291294.1:n.*754T>C
NM_000960.3:c.*754T>C NP_000951.1:n.*754T>C
XM_005259093.2:c.*1595T>C XP_005259150.1:n.*1595T>C
XR_243945.2:n.902+2932T>C
XR_430206.2:n.902+2932T>C
XR_935844.1:n.902+2932T>C
XM_005259093.3:c.*1595T>C XP_005259150.1:n.*1595T>C
XM_005259095.4:c.*1103T>C XP_005259152.1:n.*1103T>C
XR_243945.3:n.876+2932T>C
XR_430206.3:n.876+2932T>C
XR_935844.2:n.876+2932T>C
NM_000960.4:c.*754T>C MANE Select NP_000951.1:n.*754T>C
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