Canonical Allele Identifier: CA14777257
Gene: PTGIS HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.49505441A>G
GRCh37 chr20:g.48121978A>G
gnomAD v2:
20:48121978 A / G
gnomAD v3:
20:49505441 A / G
gnomAD v4:
chr20-49505441-A-G
Joint Max Group AF 0.88696492 (AFR)
Genomes Max Group AF 0.88696492 (AFR)
Exomes Max Group AF 0.32853057 (NFE)
dbSNP:
5602
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49505441A>G , CM000682.2:g.49505441A>G GRCh38
NC_000020.10:g.48121978A>G , CM000682.1:g.48121978A>G GRCh37
NC_000020.9:g.47555385A>G NCBI36
NG_007940.1:g.67730T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000244043.5:c.*2479T>C MANE Select ENSP00000244043.3:n.*2479T>C
ENST00000244043.4:c.*2479T>C ENSP00000244043.3:n.*2479T>C
NM_000961.3:c.*2479T>C NP_000952.1:n.*2479T>C
NM_000961.4:c.*2479T>C MANE Select NP_000952.1:n.*2479T>C
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