{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1542294336", "communityStandardTitle": [ "NM_000163.5(GHR):c.594A= (p.Glu198=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121909360", "rs": 121909360 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 42699978, "referenceAllele": "A", "start": 42699977 } ], "hgvs": [ "NC_000005.10:g.42699978A=", "CM000667.2:g.42699978A=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 42700080, "referenceAllele": "A", "start": 42700079 } ], "hgvs": [ "NC_000005.9:g.42700080A=", "CM000667.1:g.42700080A=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 42735837, "referenceAllele": "A", "start": 42735836 } ], "hgvs": [ "NC_000005.8:g.42735837A=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 281055, "referenceAllele": "A", "start": 281054 } ], "hgvs": [ "NG_011688.1:g.281055A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS001899" }, { "coordinates": [ { "allele": "A", "end": 281055, "referenceAllele": "A", "start": 281054 } ], "hgvs": [ "NG_011688.2:g.281055A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS673555" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1122, "referenceAllele": "A", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "ENST00000230882.9:c.594A=" ], "proteinEffect": { "hgvs": "ENSP00000230882.4:p.Glu198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS740844", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000230882.9:c.594A=" }, "RefSeq": { "hgvs": "NM_000163.5:c.594A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000230882.4:p.Glu198=" }, "RefSeq": { "hgvs": "NP_000154.1:p.Glu198=" } } } }, { "coordinates": [ { "allele": "A", "end": 784, "referenceAllele": "A", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "ENST00000230882.8:c.594A=" ], "proteinEffect": { "hgvs": "ENSP00000230882.4:p.Glu198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS248766" }, { "coordinates": [ { "allele": "A", "end": 539, "referenceAllele": "A", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "ENST00000357703.6:c.528A=" ], "proteinEffect": { "hgvs": "ENSP00000350335.3:p.Glu176=" }, "referenceSequence": "http://reg.genome.network/refseq/RS264201" }, { "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "A", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "ENST00000511135.5:c.*206A=" ], "proteinEffect": { "hgvs": "ENSP00000422333.1:n.*206A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS341469" }, { "coordinates": [ { "allele": "A", "end": 642, "referenceAllele": "A", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "ENST00000537449.5:c.594A=" ], "proteinEffect": { "hgvs": "ENSP00000442206.2:p.Glu198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS360777" }, { "coordinates": [ { "allele": "A", "end": 922, "referenceAllele": "A", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "ENST00000612382.4:c.594A=" ], "proteinEffect": { "hgvs": "ENSP00000478332.1:p.Glu198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS401285" }, { "coordinates": [ { "allele": "A", "end": 747, "referenceAllele": "A", "start": 746 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "ENST00000612626.4:c.594A=" ], "proteinEffect": { "hgvs": "ENSP00000479846.1:p.Glu198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS401383" }, { "coordinates": [ { "allele": "A", "end": 1037, "referenceAllele": "A", "start": 1036 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "ENST00000615111.4:c.594A=" ], "proteinEffect": { "hgvs": "ENSP00000478291.1:p.Glu198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS402478" }, { "coordinates": [ { "allele": "A", "end": 714, "referenceAllele": "A", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "ENST00000618088.4:c.594A=" ], "proteinEffect": { "hgvs": "ENSP00000482373.1:p.Glu198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS403781" }, { "coordinates": [ { "allele": "A", "end": 752, "referenceAllele": "A", "start": 751 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "ENST00000620156.4:c.615A=" ], "proteinEffect": { "hgvs": "ENSP00000483403.1:p.Glu205=" }, "referenceSequence": "http://reg.genome.network/refseq/RS404699" }, { "coordinates": [ { "allele": "A", "end": 605, "referenceAllele": "A", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "ENST00000622294.2:c.594A=" ], "proteinEffect": { "hgvs": "ENSP00000483926.1:p.Glu198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS405658" }, { "@id": "http://reg.genome.network/allele/PA2825075761", "coordinates": [ { "allele": "A", "end": 786, "referenceAllele": "A", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_000163.4:c.594A=" ], "proteinEffect": { "hgvs": "NP_000154.1:p.Glu198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006225" }, { "@id": "http://reg.genome.network/allele/PA2826298771", "coordinates": [ { "allele": "A", "end": 752, "referenceAllele": "A", "start": 751 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242399.2:c.615A=" ], "proteinEffect": { "hgvs": "NP_001229328.1:p.Glu205=" }, "referenceSequence": "http://reg.genome.network/refseq/RS018103" }, { "@id": "http://reg.genome.network/allele/PA2826298971", "coordinates": [ { "allele": "A", "end": 1037, "referenceAllele": "A", "start": 1036 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242400.2:c.594A=" ], "proteinEffect": { "hgvs": "NP_001229329.1:p.Glu198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS018104" }, { "@id": "http://reg.genome.network/allele/PA2826299277", "coordinates": [ { "allele": "A", "end": 745, "referenceAllele": "A", "start": 744 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242401.3:c.594A=" ], "proteinEffect": { "hgvs": "NP_001229330.1:p.Glu198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS018105" }, { "@id": "http://reg.genome.network/allele/PA2826299583", "coordinates": [ { "allele": "A", "end": 714, "referenceAllele": "A", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242402.2:c.594A=" ], "proteinEffect": { "hgvs": "NP_001229331.1:p.Glu198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS018106" }, { "@id": "http://reg.genome.network/allele/PA2826299889", "coordinates": [ { "allele": "A", "end": 922, "referenceAllele": "A", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242403.2:c.594A=" ], "proteinEffect": { "hgvs": "NP_001229332.1:p.Glu198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS018107" }, { "@id": "http://reg.genome.network/allele/PA2826300195", "coordinates": [ { "allele": "A", "end": 747, "referenceAllele": "A", "start": 746 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242404.2:c.594A=" ], "proteinEffect": { "hgvs": "NP_001229333.1:p.Glu198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS018108" }, { "@id": "http://reg.genome.network/allele/PA2826300501", "coordinates": [ { "allele": "A", "end": 642, "referenceAllele": "A", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242405.2:c.594A=" ], "proteinEffect": { "hgvs": "NP_001229334.1:p.Glu198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS018109" }, { "@id": "http://reg.genome.network/allele/PA2826300807", "coordinates": [ { "allele": "A", "end": 1008, "referenceAllele": "A", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242406.2:c.594A=" ], "proteinEffect": { "hgvs": "NP_001229335.1:p.Glu198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS018110" }, { "@id": "http://reg.genome.network/allele/PA2826301305", "coordinates": [ { "allele": "A", "end": 539, "referenceAllele": "A", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242460.1:c.528A=" ], "proteinEffect": { "hgvs": "NP_001229389.1:p.Glu176=" }, "referenceSequence": "http://reg.genome.network/refseq/RS018123" }, { "@id": "http://reg.genome.network/allele/PA2826301605", "coordinates": [ { "allele": "A", "end": 605, "referenceAllele": "A", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242462.1:c.594A=" ], "proteinEffect": { "hgvs": "NP_001229391.1:p.Glu198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS018124" }, { "coordinates": [ { "allele": "A", "end": 564, "referenceAllele": "A", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "XM_011514031.1:c.549A=" ], "proteinEffect": { "hgvs": "XP_011512333.1:p.Glu183=" }, "referenceSequence": "http://reg.genome.network/refseq/RS081257" }, { "@id": "http://reg.genome.network/allele/PA2825075761", "coordinates": [ { "allele": "A", "end": 1122, "referenceAllele": "A", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_000163.5:c.594A=" ], "proteinEffect": { "hgvs": "NP_000154.1:p.Glu198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS662336", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000230882.9:c.594A=" }, "RefSeq": { "hgvs": "NM_000163.5:c.594A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000230882.4:p.Glu198=" }, "RefSeq": { "hgvs": "NP_000154.1:p.Glu198=" } } } }, { "@id": "http://reg.genome.network/allele/PA2826299277", "coordinates": [ { "allele": "A", "end": 756, "referenceAllele": "A", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242401.4:c.594A=" ], "proteinEffect": { "hgvs": "NP_001229330.1:p.Glu198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS680063" }, { "@id": "http://reg.genome.network/allele/PA2826299889", "coordinates": [ { "allele": "A", "end": 685, "referenceAllele": "A", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN004263", "geneNCBI_id": 2690, "geneSymbol": "GHR", "hgvs": [ "NM_001242403.3:c.594A=" ], "proteinEffect": { "hgvs": "NP_001229332.1:p.Glu198=" }, "referenceSequence": "http://reg.genome.network/refseq/RS714315" } ], "type": "nucleotide" }