{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA273040",
  "communityStandardTitle": [
    "NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=171743[alleleid]",
        "alleleId": 171743,
        "preferredName": "NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/162022",
        "RCV": [
          "RCV000149443",
          "RCV000794534"
        ],
        "variationId": 162022
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-37436696-C-T",
        "id": "9-37436696-C-T",
        "variant": "9:37436696 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.37436696C>T?assembly=hg19",
        "id": "chr9:g.37436696C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.37436699C>T?assembly=hg38",
        "id": "chr9:g.37436699C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/180177322",
        "rs": 180177322
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-37436696-C-T?dataset=gnomad_r2_1",
        "id": "9-37436696-C-T",
        "variant": "9:37436696 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-37436699-C-T?dataset=gnomad_r3",
        "id": "9-37436699-C-T",
        "variant": "9:37436699 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-37436699-C-T?dataset=gnomad_r4",
        "id": "9-37436699-C-T",
        "variant": "9:37436699 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 37436699,
          "referenceAllele": "C",
          "start": 37436698
        }
      ],
      "hgvs": [
        "NC_000009.12:g.37436699C>T",
        "CM000671.2:g.37436699C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 37436696,
          "referenceAllele": "C",
          "start": 37436695
        }
      ],
      "hgvs": [
        "NC_000009.11:g.37436696C>T",
        "CM000671.1:g.37436696C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 37426696,
          "referenceAllele": "C",
          "start": 37426695
        }
      ],
      "hgvs": [
        "NC_000009.10:g.37426696C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18990,
          "referenceAllele": "C",
          "start": 18989
        }
      ],
      "hgvs": [
        "NG_008135.1:g.18990C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000881"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 959,
          "referenceAllele": "C",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000318158.11:c.904C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313432.6:p.Arg302Cys",
        "hgvsWellDefined": "ENSP00000313432.6:p.Arg302Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318158.11:c.904C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012203.2:c.904C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313432.6:p.Arg302Cys"
          },
          "RefSeq": {
            "hgvs": "NP_036335.1:p.Arg302Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 989,
          "referenceAllele": "C",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000318158.10:c.904C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313432.6:p.Arg302Cys",
        "hgvsWellDefined": "ENSP00000313432.6:p.Arg302Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 931,
          "referenceAllele": "C",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000460882.5:n.931C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305526"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1605,
          "referenceAllele": "C",
          "start": 1604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000480596.5:n.1605C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1483,
          "endIntronDirection": "-",
          "endIntronOffset": 181,
          "referenceAllele": "C",
          "start": 1483,
          "startIntronDirection": "-",
          "startIntronOffset": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000494290.1:c.*52-182C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432021.1:n.*52-182C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331257"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4472,
          "referenceAllele": "C",
          "start": 4471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000497693.1:n.4472C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333871"
    },
    {
      "@id": "http://reg.genome.network/allele/PA273041",
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "NM_012203.1:c.904C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036335.1:p.Arg302Cys",
        "hgvsWellDefined": "NP_036335.1:p.Arg302Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 638,
          "referenceAllele": "C",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_005251631.1:c.583C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251688.1:p.Arg195Cys",
        "hgvsWellDefined": "XP_005251688.1:p.Arg195Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1295,
          "referenceAllele": "C",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_011518073.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516375.1:p.Arg168Cys",
        "hgvsWellDefined": "XP_011516375.1:p.Arg168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1001,
          "endIntronDirection": "-",
          "endIntronOffset": 711,
          "referenceAllele": "C",
          "start": 1001,
          "startIntronDirection": "-",
          "startIntronOffset": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015320.2:c.946-712C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870809.1:n.946-712C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 921,
          "endIntronDirection": "-",
          "endIntronOffset": 711,
          "referenceAllele": "C",
          "start": 921,
          "startIntronDirection": "-",
          "startIntronOffset": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015321.2:c.866-712C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870810.1:n.866-712C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1361,
          "endIntronDirection": "-",
          "endIntronOffset": 711,
          "referenceAllele": "C",
          "start": 1361,
          "startIntronDirection": "-",
          "startIntronOffset": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015323.2:c.544-712C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870812.1:n.544-712C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1233,
          "endIntronDirection": "-",
          "endIntronOffset": 711,
          "referenceAllele": "C",
          "start": 1233,
          "startIntronDirection": "-",
          "startIntronOffset": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_024447716.1:c.1219-712C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303484.1:n.1219-712C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581297"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1153,
          "endIntronDirection": "-",
          "endIntronOffset": 711,
          "referenceAllele": "C",
          "start": 1153,
          "startIntronDirection": "-",
          "startIntronOffset": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_024447717.1:c.1139-712C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303485.1:n.1139-712C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1233,
          "endIntronDirection": "-",
          "endIntronOffset": 711,
          "referenceAllele": "C",
          "start": 1233,
          "startIntronDirection": "-",
          "startIntronOffset": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956828.1:n.1234-712C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602966"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1153,
          "endIntronDirection": "-",
          "endIntronOffset": 711,
          "referenceAllele": "C",
          "start": 1153,
          "startIntronDirection": "-",
          "startIntronOffset": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956829.1:n.1154-712C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602967"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2324,
          "referenceAllele": "C",
          "start": 2323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956830.1:n.2324C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1999,
          "referenceAllele": "C",
          "start": 1998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956831.1:n.1999C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602969"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1323,
          "referenceAllele": "C",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956832.1:n.1323C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602970"
    },
    {
      "@id": "http://reg.genome.network/allele/PA273041",
      "coordinates": [
        {
          "allele": "T",
          "end": 959,
          "referenceAllele": "C",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "NM_012203.2:c.904C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036335.1:p.Arg302Cys",
        "hgvsWellDefined": "NP_036335.1:p.Arg302Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667943",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318158.11:c.904C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012203.2:c.904C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313432.6:p.Arg302Cys"
          },
          "RefSeq": {
            "hgvs": "NP_036335.1:p.Arg302Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}