{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA275883", "communityStandardTitle": [ "NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=200621[alleleid]", "alleleId": 200621, "preferredName": "NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/204231", "RCV": [ "RCV000186438", "RCV001390116" ], "variationId": 204231 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.37424860G>A?assembly=hg19", "id": "chr9:g.37424860G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.37424863G>A?assembly=hg38", "id": "chr9:g.37424863G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/180177304", "rs": 180177304 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-37424863-G-A?dataset=gnomad_r3", "id": "9-37424863-G-A", "variant": "9:37424863 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-37424863-G-A?dataset=gnomad_r4", "id": "9-37424863-G-A", "variant": "9:37424863 G / A" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 37424863, "referenceAllele": "G", "start": 37424862 } ], "hgvs": [ "NC_000009.12:g.37424863G>A", "CM000671.2:g.37424863G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 37424860, "referenceAllele": "G", "start": 37424859 } ], "hgvs": [ "NC_000009.11:g.37424860G>A", "CM000671.1:g.37424860G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 37414860, "referenceAllele": "G", "start": 37414859 } ], "hgvs": [ "NC_000009.10:g.37414860G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 7154, "referenceAllele": "G", "start": 7153 } ], "hgvs": [ "NG_008135.1:g.7154G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000881" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 157, "referenceAllele": "G", "start": 156 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "ENST00000318158.11:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000313432.6:p.Trp34Ter", "hgvsWellDefined": "ENSP00000313432.6:p.Trp34_Leu328delinsAspSerAspGluProIleProAlaLysGluLeuGluArgGlyValAlaGlyAlaHisGlyLeuLeuCysLeuLeuSerAspHisValAspLysArgIleLeuAspAlaAlaGlyAlaAsnLeuLysValIleSerThrMetSerValGlyIleAspHisLeuAlaLeuAspGluIleLysLysArgGlyIleArgValGlyTyrThrProAspValLeuThrAspThrThrAlaGluLeuAlaValSerLeuLeuLeuThrThrCysArgArgLeuProGluAlaIleGluGluValLysAsnGlyGlyTrpThrSerTrpLysProLeuTrpLeuCysGlyTyrGlyLeuThrGlnSerThrValGlyIleIleGlyLeuGlyArgIleGlyGlnAlaIleAlaArgArgLeuLysProPheGlyValGlnArgPheLeuTyrThrGlyArgGlnProArgProGluGluAlaAlaGluPheGlnAlaGluPheValSerThrProGluLeuAlaAlaGlnSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysValIleLeuProHisIleGlySerAlaThrHisArgThrArgAsnThrMetSerLeuLeuAlaAlaAsnAsnLeuLeuAlaGlyLeuArgGlyGluProMetProSerGluLeuLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746197", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000318158.11:c.102G>A" }, "RefSeq": { "hgvs": "NM_012203.2:c.102G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000313432.6:p.Trp34Ter" }, "RefSeq": { "hgvs": "NP_036335.1:p.Trp34Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 187, "referenceAllele": "G", "start": 186 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "ENST00000318158.10:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000313432.6:p.Trp34Ter", "hgvsWellDefined": "ENSP00000313432.6:p.Trp34_Leu328delinsAspSerAspGluProIleProAlaLysGluLeuGluArgGlyValAlaGlyAlaHisGlyLeuLeuCysLeuLeuSerAspHisValAspLysArgIleLeuAspAlaAlaGlyAlaAsnLeuLysValIleSerThrMetSerValGlyIleAspHisLeuAlaLeuAspGluIleLysLysArgGlyIleArgValGlyTyrThrProAspValLeuThrAspThrThrAlaGluLeuAlaValSerLeuLeuLeuThrThrCysArgArgLeuProGluAlaIleGluGluValLysAsnGlyGlyTrpThrSerTrpLysProLeuTrpLeuCysGlyTyrGlyLeuThrGlnSerThrValGlyIleIleGlyLeuGlyArgIleGlyGlnAlaIleAlaArgArgLeuLysProPheGlyValGlnArgPheLeuTyrThrGlyArgGlnProArgProGluGluAlaAlaGluPheGlnAlaGluPheValSerThrProGluLeuAlaAlaGlnSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysValIleLeuProHisIleGlySerAlaThrHisArgThrArgAsnThrMetSerLeuLeuAlaAlaAsnAsnLeuLeuAlaGlyLeuArgGlyGluProMetProSerGluLeuLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS257492" }, { "coordinates": [ { "allele": "A", "end": 139, "referenceAllele": "G", "start": 138 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "ENST00000377824.8:n.139G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS271754" }, { "coordinates": [ { "allele": "A", "end": 129, "referenceAllele": "G", "start": 128 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "ENST00000460882.5:n.129G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS305526" }, { "coordinates": [ { "allele": "A", "end": 111, "referenceAllele": "G", "start": 110 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "ENST00000487399.5:n.111G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS325976" }, { "coordinates": [ { "allele": "A", "end": 109, "endIntronDirection": "+", "endIntronOffset": 2030, "referenceAllele": "G", "start": 109, "startIntronDirection": "+", "startIntronOffset": 2029 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "ENST00000491488.5:n.109+2030G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS329080" }, { "coordinates": [ { "allele": "A", "end": 159, "referenceAllele": "G", "start": 158 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "ENST00000493368.5:n.159G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS330532" }, { "coordinates": [ { "allele": "A", "end": 107, "referenceAllele": "G", "start": 106 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "ENST00000607784.1:c.102G>A" ], "proteinEffect": { "hgvs": "ENSP00000475569.1:p.Trp34Ter", "hgvsWellDefined": "ENSP00000475569.1:p.Trp34_Ser358delinsAspSerAspGluProIleProAlaLysGluLeuGluArgGlyValAlaGlyAlaHisGlyLeuLeuCysLeuLeuSerAspHisValAspLysArgIleLeuAspAlaAlaGlyAlaAsnLeuLysValIleSerThrMetSerValGlyIleAspHisLeuAlaLeuAspGluIleLysLysArgGlyIleArgValGlyTyrThrProAspValLeuThrAspThrThrAlaGluLeuAlaValSerLeuLeuLeuThrThrCysArgArgLeuProGluAlaIleGluGluValLysAsnGlyGlyTrpThrSerTrpLysProLeuTrpLeuCysGlyTyrGlyLeuThrGlnSerThrValGlyIleIleGlyLeuGlyArgIleGlyGlnAlaIleAlaArgArgLeuLysProPheGlyValGlnArgPheLeuTyrThrGlyArgGlnProArgProGluGluAlaAlaGluPheGlnAlaGluPheValSerThrProGluLeuAlaAlaGlnSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysGlyProGlyIleGlnLeuThrAlaTrpGlyLeuLeuGlnLysAlaGlyLeuGlyLeuArgArgGlyGlnSerGlyHisGluAlaAlaAlaAlaThrAlaAlaSerThrLysSerLysHisTrpAlaAlaAlaMetSerTyrCysGlnGlnGluGlyLysAspAlaIleIleCysAspValLysArgProCysSerSerLysGlnHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS399944" }, { "@id": "http://reg.genome.network/allele/PA275884", "coordinates": [ { "allele": "A", "end": 143, "referenceAllele": "G", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "NM_012203.1:c.102G>A" ], "proteinEffect": { "hgvs": "NP_036335.1:p.Trp34Ter", "hgvsWellDefined": "NP_036335.1:p.Trp34_Leu328delinsAspSerAspGluProIleProAlaLysGluLeuGluArgGlyValAlaGlyAlaHisGlyLeuLeuCysLeuLeuSerAspHisValAspLysArgIleLeuAspAlaAlaGlyAlaAsnLeuLysValIleSerThrMetSerValGlyIleAspHisLeuAlaLeuAspGluIleLysLysArgGlyIleArgValGlyTyrThrProAspValLeuThrAspThrThrAlaGluLeuAlaValSerLeuLeuLeuThrThrCysArgArgLeuProGluAlaIleGluGluValLysAsnGlyGlyTrpThrSerTrpLysProLeuTrpLeuCysGlyTyrGlyLeuThrGlnSerThrValGlyIleIleGlyLeuGlyArgIleGlyGlnAlaIleAlaArgArgLeuLysProPheGlyValGlnArgPheLeuTyrThrGlyArgGlnProArgProGluGluAlaAlaGluPheGlnAlaGluPheValSerThrProGluLeuAlaAlaGlnSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysValIleLeuProHisIleGlySerAlaThrHisArgThrArgAsnThrMetSerLeuLeuAlaAlaAsnAsnLeuLeuAlaGlyLeuArgGlyGluProMetProSerGluLeuLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032392" }, { "coordinates": [ { "allele": "A", "end": 138, "endIntronDirection": "+", "endIntronOffset": 2030, "referenceAllele": "G", "start": 138, "startIntronDirection": "+", "startIntronOffset": 2029 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "XM_005251631.1:c.83+2030G>A" ], "proteinEffect": { "hgvs": "XP_005251688.1:n.83+2030G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS059608" }, { "coordinates": [ { "allele": "A", "end": 133, "referenceAllele": "G", "start": 132 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "XM_011518073.1:c.-661G>A" ], "proteinEffect": { "hgvs": "XP_011516375.1:n.-661G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS085252" }, { "coordinates": [ { "allele": "A", "end": 187, "referenceAllele": "G", "start": 186 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "XR_929374.1:n.187G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS125523" }, { "coordinates": [ { "allele": "A", "end": 158, "referenceAllele": "G", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "XM_017015320.2:c.102G>A" ], "proteinEffect": { "hgvs": "XP_016870809.1:p.Trp34Ter", "hgvsWellDefined": "XP_016870809.1:p.Trp34_Ser338delinsAspSerAspGluProIleProAlaLysGluLeuGluArgGlyValAlaGlyAlaHisGlyLeuLeuCysLeuLeuSerAspHisValAspLysArgIleLeuAspAlaAlaGlyAlaAsnLeuLysValIleSerThrMetSerValGlyIleAspHisLeuAlaLeuAspGluIleLysLysArgGlyIleArgValGlyTyrThrProAspValLeuThrAspThrThrAlaGluLeuAlaValSerLeuLeuLeuThrThrCysArgArgLeuProGluAlaIleGluGluValLysAsnGlyGlyTrpThrSerTrpLysProLeuTrpLeuCysGlyTyrGlyLeuThrGlnSerThrValGlyIleIleGlyLeuGlyArgIleGlyGlnAlaIleAlaArgArgLeuLysProPheGlyValGlnArgPheLeuTyrThrGlyArgGlnProArgProGluGluAlaAlaGluPheGlnAlaGluPheValSerThrProGluLeuAlaAlaGlnSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysAspGlyProGluPheCysHisPheGluIleMetCysTyrSerIleSerAlaThrLysAsnHisTyrProGlyMetPheLeuIleProSerLeuValProHisGlnGlyArgAspLysGlnAsnProValValThrMetAlaLeuGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568069" }, { "coordinates": [ { "allele": "A", "end": 158, "referenceAllele": "G", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "XM_017015321.2:c.102G>A" ], "proteinEffect": { "hgvs": "XP_016870810.1:p.Trp34Ter", "hgvsWellDefined": "XP_016870810.1:p.Trp34_Thr309delinsAspSerAspGluProIleProAlaLysGluLeuGluArgGlyValAlaGlyAlaHisGlyLeuLeuCysLeuLeuSerAspHisValAspLysArgIleLeuAspAlaAlaGlyAlaAsnLeuLysValIleSerThrMetSerValGlyIleAspHisLeuAlaLeuAspGluIleLysLysArgGlyIleArgValGlyTyrThrProAspValLeuThrAspThrThrAlaGluLeuAlaValSerLeuLeuLeuThrThrCysArgArgLeuProGluAlaIleGluGluValLysAsnGlyGlyTrpThrSerTrpLysProLeuTrpLeuCysGlyTyrGlyLeuThrGlnSerThrValGlyIleIleGlyLeuGlyArgIleGlyGlnAlaIleAlaArgArgLeuLysProPheGlyValGlnArgPheLeuTyrThrGlyArgGlnProArgProGluGluAlaAlaGluPheGlnAlaGluPheValSerThrProGluLeuAlaAlaGlnSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysAspSerPheThrCysProSerProArgThrGlyGlnThrGluProSerCysAspHisGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568070" }, { "coordinates": [ { "allele": "A", "end": 158, "referenceAllele": "G", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "XM_017015323.2:c.-661G>A" ], "proteinEffect": { "hgvs": "XP_016870812.1:n.-661G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS568071" }, { "coordinates": [ { "allele": "A", "end": 390, "referenceAllele": "G", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "XM_024447716.1:c.375G>A" ], "proteinEffect": { "hgvs": "XP_024303484.1:p.Trp125Ter", "hgvsWellDefined": "XP_024303484.1:p.Trp125_Ser429delinsAspSerAspGluProIleProAlaLysGluLeuGluArgGlyValAlaGlyAlaHisGlyLeuLeuCysLeuLeuSerAspHisValAspLysArgIleLeuAspAlaAlaGlyAlaAsnLeuLysValIleSerThrMetSerValGlyIleAspHisLeuAlaLeuAspGluIleLysLysArgGlyIleArgValGlyTyrThrProAspValLeuThrAspThrThrAlaGluLeuAlaValSerLeuLeuLeuThrThrCysArgArgLeuProGluAlaIleGluGluValLysAsnGlyGlyTrpThrSerTrpLysProLeuTrpLeuCysGlyTyrGlyLeuThrGlnSerThrValGlyIleIleGlyLeuGlyArgIleGlyGlnAlaIleAlaArgArgLeuLysProPheGlyValGlnArgPheLeuTyrThrGlyArgGlnProArgProGluGluAlaAlaGluPheGlnAlaGluPheValSerThrProGluLeuAlaAlaGlnSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysAspGlyProGluPheCysHisPheGluIleMetCysTyrSerIleSerAlaThrLysAsnHisTyrProGlyMetPheLeuIleProSerLeuValProHisGlnGlyArgAspLysGlnAsnProValValThrMetAlaLeuGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581297" }, { "coordinates": [ { "allele": "A", "end": 390, "referenceAllele": "G", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "XM_024447717.1:c.375G>A" ], "proteinEffect": { "hgvs": "XP_024303485.1:p.Trp125Ter", "hgvsWellDefined": "XP_024303485.1:p.Trp125_Thr400delinsAspSerAspGluProIleProAlaLysGluLeuGluArgGlyValAlaGlyAlaHisGlyLeuLeuCysLeuLeuSerAspHisValAspLysArgIleLeuAspAlaAlaGlyAlaAsnLeuLysValIleSerThrMetSerValGlyIleAspHisLeuAlaLeuAspGluIleLysLysArgGlyIleArgValGlyTyrThrProAspValLeuThrAspThrThrAlaGluLeuAlaValSerLeuLeuLeuThrThrCysArgArgLeuProGluAlaIleGluGluValLysAsnGlyGlyTrpThrSerTrpLysProLeuTrpLeuCysGlyTyrGlyLeuThrGlnSerThrValGlyIleIleGlyLeuGlyArgIleGlyGlnAlaIleAlaArgArgLeuLysProPheGlyValGlnArgPheLeuTyrThrGlyArgGlnProArgProGluGluAlaAlaGluPheGlnAlaGluPheValSerThrProGluLeuAlaAlaGlnSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysAspSerPheThrCysProSerProArgThrGlyGlnThrGluProSerCysAspHisGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581298" }, { "coordinates": [ { "allele": "A", "end": 390, "referenceAllele": "G", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "XR_002956828.1:n.390G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602966" }, { "coordinates": [ { "allele": "A", "end": 390, "referenceAllele": "G", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "XR_002956829.1:n.390G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602967" }, { "coordinates": [ { "allele": "A", "end": 161, "referenceAllele": "G", "start": 160 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "XR_002956830.1:n.161G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602968" }, { "coordinates": [ { "allele": "A", "end": 138, "endIntronDirection": "+", "endIntronOffset": 2030, "referenceAllele": "G", "start": 138, "startIntronDirection": "+", "startIntronOffset": 2029 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "XR_002956831.1:n.138+2030G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602969" }, { "coordinates": [ { "allele": "A", "end": 161, "referenceAllele": "G", "start": 160 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "XR_002956832.1:n.161G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602970" }, { "@id": "http://reg.genome.network/allele/PA275884", "coordinates": [ { "allele": "A", "end": 157, "referenceAllele": "G", "start": 156 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "NM_012203.2:c.102G>A" ], "proteinEffect": { "hgvs": "NP_036335.1:p.Trp34Ter", "hgvsWellDefined": "NP_036335.1:p.Trp34_Leu328delinsAspSerAspGluProIleProAlaLysGluLeuGluArgGlyValAlaGlyAlaHisGlyLeuLeuCysLeuLeuSerAspHisValAspLysArgIleLeuAspAlaAlaGlyAlaAsnLeuLysValIleSerThrMetSerValGlyIleAspHisLeuAlaLeuAspGluIleLysLysArgGlyIleArgValGlyTyrThrProAspValLeuThrAspThrThrAlaGluLeuAlaValSerLeuLeuLeuThrThrCysArgArgLeuProGluAlaIleGluGluValLysAsnGlyGlyTrpThrSerTrpLysProLeuTrpLeuCysGlyTyrGlyLeuThrGlnSerThrValGlyIleIleGlyLeuGlyArgIleGlyGlnAlaIleAlaArgArgLeuLysProPheGlyValGlnArgPheLeuTyrThrGlyArgGlnProArgProGluGluAlaAlaGluPheGlnAlaGluPheValSerThrProGluLeuAlaAlaGlnSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysValIleLeuProHisIleGlySerAlaThrHisArgThrArgAsnThrMetSerLeuLeuAlaAlaAsnAsnLeuLeuAlaGlyLeuArgGlyGluProMetProSerGluLeuLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS667943", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000318158.11:c.102G>A" }, "RefSeq": { "hgvs": "NM_012203.2:c.102G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000313432.6:p.Trp34Ter" }, "RefSeq": { "hgvs": "NP_036335.1:p.Trp34Ter" } } } } ], "type": "nucleotide" }