{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA373442781",
  "communityStandardTitle": [
    "NM_012203.2(GRHPR):c.457C>T (p.Gln153Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=972044[alleleid]",
        "alleleId": 972044,
        "preferredName": "NM_012203.2(GRHPR):c.457C>T (p.Gln153Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/984354",
        "RCV": [
          "RCV001264364"
        ],
        "variationId": 984354
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.37428533C>T?assembly=hg19",
        "id": "chr9:g.37428533C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.37428536C>T?assembly=hg38",
        "id": "chr9:g.37428536C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1341484544",
        "rs": 1341484544
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-37428533-C-T?dataset=gnomad_r2_1",
        "id": "9-37428533-C-T",
        "variant": "9:37428533 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 37428536,
          "referenceAllele": "C",
          "start": 37428535
        }
      ],
      "hgvs": [
        "NC_000009.12:g.37428536C>T",
        "CM000671.2:g.37428536C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 37428533,
          "referenceAllele": "C",
          "start": 37428532
        }
      ],
      "hgvs": [
        "NC_000009.11:g.37428533C>T",
        "CM000671.1:g.37428533C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 37418533,
          "referenceAllele": "C",
          "start": 37418532
        }
      ],
      "hgvs": [
        "NC_000009.10:g.37418533C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10827,
          "referenceAllele": "C",
          "start": 10826
        }
      ],
      "hgvs": [
        "NG_008135.1:g.10827C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000881"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 512,
          "referenceAllele": "C",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000318158.11:c.457C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313432.6:p.Gln153Ter",
        "hgvsWellDefined": "ENSP00000313432.6:p.Gln153_Leu328delinsSerThrValGlyIleIleGlyLeuGlyArgIleGlyGlnAlaIleAlaArgArgLeuLysProPheGlyValGlnArgPheLeuTyrThrGlyArgGlnProArgProGluGluAlaAlaGluPheGlnAlaGluPheValSerThrProGluLeuAlaAlaGlnSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysValIleLeuProHisIleGlySerAlaThrHisArgThrArgAsnThrMetSerLeuLeuAlaAlaAsnAsnLeuLeuAlaGlyLeuArgGlyGluProMetProSerGluLeuLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318158.11:c.457C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012203.2:c.457C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313432.6:p.Gln153Ter"
          },
          "RefSeq": {
            "hgvs": "NP_036335.1:p.Gln153Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 542,
          "referenceAllele": "C",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000318158.10:c.457C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313432.6:p.Gln153Ter",
        "hgvsWellDefined": "ENSP00000313432.6:p.Gln153_Leu328delinsSerThrValGlyIleIleGlyLeuGlyArgIleGlyGlnAlaIleAlaArgArgLeuLysProPheGlyValGlnArgPheLeuTyrThrGlyArgGlnProArgProGluGluAlaAlaGluPheGlnAlaGluPheValSerThrProGluLeuAlaAlaGlnSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysValIleLeuProHisIleGlySerAlaThrHisArgThrArgAsnThrMetSerLeuLeuAlaAlaAsnAsnLeuLeuAlaGlyLeuArgGlyGluProMetProSerGluLeuLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 494,
          "referenceAllele": "C",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000377824.8:n.494C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS271754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 484,
          "referenceAllele": "C",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000460882.5:n.484C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305526"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 162,
          "referenceAllele": "C",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000491488.5:n.162C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 514,
          "referenceAllele": "C",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000493368.5:n.514C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 831,
          "referenceAllele": "C",
          "start": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000497693.1:n.831C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333871"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 462,
          "referenceAllele": "C",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000607784.1:c.457C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475569.1:p.Gln153Ter",
        "hgvsWellDefined": "ENSP00000475569.1:p.Gln153_Ser358delinsSerThrValGlyIleIleGlyLeuGlyArgIleGlyGlnAlaIleAlaArgArgLeuLysProPheGlyValGlnArgPheLeuTyrThrGlyArgGlnProArgProGluGluAlaAlaGluPheGlnAlaGluPheValSerThrProGluLeuAlaAlaGlnSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysGlyProGlyIleGlnLeuThrAlaTrpGlyLeuLeuGlnLysAlaGlyLeuGlyLeuArgArgGlyGlnSerGlyHisGluAlaAlaAlaAlaThrAlaAlaSerThrLysSerLysHisTrpAlaAlaAlaMetSerTyrCysGlnGlnGluGlyLysAspAlaIleIleCysAspValLysArgProCysSerSerLysGlnHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS399944"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139717630",
      "coordinates": [
        {
          "allele": "T",
          "end": 498,
          "referenceAllele": "C",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "NM_012203.1:c.457C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036335.1:p.Gln153Ter",
        "hgvsWellDefined": "NP_036335.1:p.Gln153_Leu328delinsSerThrValGlyIleIleGlyLeuGlyArgIleGlyGlnAlaIleAlaArgArgLeuLysProPheGlyValGlnArgPheLeuTyrThrGlyArgGlnProArgProGluGluAlaAlaGluPheGlnAlaGluPheValSerThrProGluLeuAlaAlaGlnSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysValIleLeuProHisIleGlySerAlaThrHisArgThrArgAsnThrMetSerLeuLeuAlaAlaAsnAsnLeuLeuAlaGlyLeuArgGlyGluProMetProSerGluLeuLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 191,
          "referenceAllele": "C",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_005251631.1:c.136C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251688.1:p.Gln46Ter",
        "hgvsWellDefined": "XP_005251688.1:p.Gln46_Leu221delinsSerThrValGlyIleIleGlyLeuGlyArgIleGlyGlnAlaIleAlaArgArgLeuLysProPheGlyValGlnArgPheLeuTyrThrGlyArgGlnProArgProGluGluAlaAlaGluPheGlnAlaGluPheValSerThrProGluLeuAlaAlaGlnSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysValIleLeuProHisIleGlySerAlaThrHisArgThrArgAsnThrMetSerLeuLeuAlaAlaAsnAsnLeuLeuAlaGlyLeuArgGlyGluProMetProSerGluLeuLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 488,
          "referenceAllele": "C",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_011518073.1:c.-306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516375.1:n.-306C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 542,
          "referenceAllele": "C",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_929374.1:n.542C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125523"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 513,
          "referenceAllele": "C",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015320.2:c.457C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870809.1:p.Gln153Ter",
        "hgvsWellDefined": "XP_016870809.1:p.Gln153_Ser338delinsSerThrValGlyIleIleGlyLeuGlyArgIleGlyGlnAlaIleAlaArgArgLeuLysProPheGlyValGlnArgPheLeuTyrThrGlyArgGlnProArgProGluGluAlaAlaGluPheGlnAlaGluPheValSerThrProGluLeuAlaAlaGlnSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysAspGlyProGluPheCysHisPheGluIleMetCysTyrSerIleSerAlaThrLysAsnHisTyrProGlyMetPheLeuIleProSerLeuValProHisGlnGlyArgAspLysGlnAsnProValValThrMetAlaLeuGluSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 513,
          "referenceAllele": "C",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015321.2:c.457C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870810.1:p.Gln153Ter",
        "hgvsWellDefined": "XP_016870810.1:p.Gln153_Thr309delinsSerThrValGlyIleIleGlyLeuGlyArgIleGlyGlnAlaIleAlaArgArgLeuLysProPheGlyValGlnArgPheLeuTyrThrGlyArgGlnProArgProGluGluAlaAlaGluPheGlnAlaGluPheValSerThrProGluLeuAlaAlaGlnSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysAspSerPheThrCysProSerProArgThrGlyGlnThrGluProSerCysAspHisGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 513,
          "referenceAllele": "C",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015323.2:c.-306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870812.1:n.-306C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 745,
          "referenceAllele": "C",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_024447716.1:c.730C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303484.1:p.Gln244Ter",
        "hgvsWellDefined": "XP_024303484.1:p.Gln244_Ser429delinsSerThrValGlyIleIleGlyLeuGlyArgIleGlyGlnAlaIleAlaArgArgLeuLysProPheGlyValGlnArgPheLeuTyrThrGlyArgGlnProArgProGluGluAlaAlaGluPheGlnAlaGluPheValSerThrProGluLeuAlaAlaGlnSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysAspGlyProGluPheCysHisPheGluIleMetCysTyrSerIleSerAlaThrLysAsnHisTyrProGlyMetPheLeuIleProSerLeuValProHisGlnGlyArgAspLysGlnAsnProValValThrMetAlaLeuGluSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581297"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 745,
          "referenceAllele": "C",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_024447717.1:c.730C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303485.1:p.Gln244Ter",
        "hgvsWellDefined": "XP_024303485.1:p.Gln244_Thr400delinsSerThrValGlyIleIleGlyLeuGlyArgIleGlyGlnAlaIleAlaArgArgLeuLysProPheGlyValGlnArgPheLeuTyrThrGlyArgGlnProArgProGluGluAlaAlaGluPheGlnAlaGluPheValSerThrProGluLeuAlaAlaGlnSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysAspSerPheThrCysProSerProArgThrGlyGlnThrGluProSerCysAspHisGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 745,
          "referenceAllele": "C",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956828.1:n.745C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602966"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 745,
          "referenceAllele": "C",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956829.1:n.745C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602967"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 516,
          "referenceAllele": "C",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956830.1:n.516C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 191,
          "referenceAllele": "C",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956831.1:n.191C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602969"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 516,
          "referenceAllele": "C",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956832.1:n.516C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602970"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139717630",
      "coordinates": [
        {
          "allele": "T",
          "end": 512,
          "referenceAllele": "C",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "NM_012203.2:c.457C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036335.1:p.Gln153Ter",
        "hgvsWellDefined": "NP_036335.1:p.Gln153_Leu328delinsSerThrValGlyIleIleGlyLeuGlyArgIleGlyGlnAlaIleAlaArgArgLeuLysProPheGlyValGlnArgPheLeuTyrThrGlyArgGlnProArgProGluGluAlaAlaGluPheGlnAlaGluPheValSerThrProGluLeuAlaAlaGlnSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysValIleLeuProHisIleGlySerAlaThrHisArgThrArgAsnThrMetSerLeuLeuAlaAlaAsnAsnLeuLeuAlaGlyLeuArgGlyGluProMetProSerGluLeuLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667943",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318158.11:c.457C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012203.2:c.457C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313432.6:p.Gln153Ter"
          },
          "RefSeq": {
            "hgvs": "NP_036335.1:p.Gln153Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}