{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5059061",
  "communityStandardTitle": [
    "NM_012203.2(GRHPR):c.468C>T (p.Val156=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=308348[alleleid]",
        "alleleId": 308348,
        "preferredName": "NM_012203.2(GRHPR):c.468C>T (p.Val156=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/366855",
        "RCV": [
          "RCV000405730",
          "RCV000885870",
          "RCV002338963"
        ],
        "variationId": 366855
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-37428544-C-T",
        "id": "9-37428544-C-T",
        "variant": "9:37428544 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.37428544C>T?assembly=hg19",
        "id": "chr9:g.37428544C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.37428547C>T?assembly=hg38",
        "id": "chr9:g.37428547C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/142509393",
        "rs": 142509393
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-37428544-C-T?dataset=gnomad_r2_1",
        "id": "9-37428544-C-T",
        "variant": "9:37428544 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-37428547-C-T?dataset=gnomad_r3",
        "id": "9-37428547-C-T",
        "variant": "9:37428547 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-37428547-C-T?dataset=gnomad_r4",
        "id": "9-37428547-C-T",
        "variant": "9:37428547 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 37428547,
          "referenceAllele": "C",
          "start": 37428546
        }
      ],
      "hgvs": [
        "NC_000009.12:g.37428547C>T",
        "CM000671.2:g.37428547C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 37428544,
          "referenceAllele": "C",
          "start": 37428543
        }
      ],
      "hgvs": [
        "NC_000009.11:g.37428544C>T",
        "CM000671.1:g.37428544C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 37418544,
          "referenceAllele": "C",
          "start": 37418543
        }
      ],
      "hgvs": [
        "NC_000009.10:g.37418544C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10838,
          "referenceAllele": "C",
          "start": 10837
        }
      ],
      "hgvs": [
        "NG_008135.1:g.10838C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000881"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 523,
          "referenceAllele": "C",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000318158.11:c.468C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313432.6:p.Val156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318158.11:c.468C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012203.2:c.468C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313432.6:p.Val156="
          },
          "RefSeq": {
            "hgvs": "NP_036335.1:p.Val156="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 553,
          "referenceAllele": "C",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000318158.10:c.468C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313432.6:p.Val156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 505,
          "referenceAllele": "C",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000377824.8:n.505C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS271754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "C",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000460882.5:n.495C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305526"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10,
          "referenceAllele": "C",
          "start": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000480596.5:n.10C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "referenceAllele": "C",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000491488.5:n.173C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "referenceAllele": "C",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000493368.5:n.525C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 842,
          "referenceAllele": "C",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000497693.1:n.842C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333871"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 473,
          "referenceAllele": "C",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000607784.1:c.468C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475569.1:p.Val156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS399944"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829724699",
      "coordinates": [
        {
          "allele": "T",
          "end": 509,
          "referenceAllele": "C",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "NM_012203.1:c.468C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036335.1:p.Val156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 202,
          "referenceAllele": "C",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_005251631.1:c.147C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251688.1:p.Val49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 499,
          "referenceAllele": "C",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_011518073.1:c.-295C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516375.1:n.-295C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 553,
          "referenceAllele": "C",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_929374.1:n.553C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125523"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 524,
          "referenceAllele": "C",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015320.2:c.468C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870809.1:p.Val156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 524,
          "referenceAllele": "C",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015321.2:c.468C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870810.1:p.Val156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 524,
          "referenceAllele": "C",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015323.2:c.-295C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870812.1:n.-295C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "C",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_024447716.1:c.741C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303484.1:p.Val247="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581297"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "C",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_024447717.1:c.741C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303485.1:p.Val247="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "C",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956828.1:n.756C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602966"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "C",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956829.1:n.756C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602967"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956830.1:n.527C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 202,
          "referenceAllele": "C",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956831.1:n.202C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602969"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956832.1:n.527C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602970"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829724699",
      "coordinates": [
        {
          "allele": "T",
          "end": 523,
          "referenceAllele": "C",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "NM_012203.2:c.468C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036335.1:p.Val156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667943",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318158.11:c.468C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012203.2:c.468C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313432.6:p.Val156="
          },
          "RefSeq": {
            "hgvs": "NP_036335.1:p.Val156="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}