{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3254508",
  "communityStandardTitle": [
    "NM_000163.5(GHR):c.814A>G (p.Ile272Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=894400[alleleid]",
        "alleleId": 894400,
        "preferredName": "NM_000163.5(GHR):c.814A>G (p.Ile272Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/907710",
        "RCV": [
          "RCV001157740",
          "RCV001759914"
        ],
        "variationId": 907710
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-42713560-A-G",
        "id": "5-42713560-A-G",
        "variant": "5:42713560 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.42713560A>G?assembly=hg19",
        "id": "chr5:g.42713560A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.42713458A>G?assembly=hg38",
        "id": "chr5:g.42713458A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/35040971",
        "rs": 35040971
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-42713560-A-G?dataset=gnomad_r2_1",
        "id": "5-42713560-A-G",
        "variant": "5:42713560 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-42713458-A-G?dataset=gnomad_r3",
        "id": "5-42713458-A-G",
        "variant": "5:42713458 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-42713458-A-G?dataset=gnomad_r4",
        "id": "5-42713458-A-G",
        "variant": "5:42713458 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 42713458,
          "referenceAllele": "A",
          "start": 42713457
        }
      ],
      "hgvs": [
        "NC_000005.10:g.42713458A>G",
        "CM000667.2:g.42713458A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 42713560,
          "referenceAllele": "A",
          "start": 42713559
        }
      ],
      "hgvs": [
        "NC_000005.9:g.42713560A>G",
        "CM000667.1:g.42713560A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 42749317,
          "referenceAllele": "A",
          "start": 42749316
        }
      ],
      "hgvs": [
        "NC_000005.8:g.42749317A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 294535,
          "referenceAllele": "A",
          "start": 294534
        }
      ],
      "hgvs": [
        "NG_011688.1:g.294535A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001899"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 294535,
          "referenceAllele": "A",
          "start": 294534
        }
      ],
      "hgvs": [
        "NG_011688.2:g.294535A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673555"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1342,
          "referenceAllele": "A",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000230882.9:c.814A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000230882.4:p.Ile272Val",
        "hgvsWellDefined": "ENSP00000230882.4:p.Ile272Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740844",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000230882.9:c.814A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000163.5:c.814A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000230882.4:p.Ile272Val"
          },
          "RefSeq": {
            "hgvs": "NP_000154.1:p.Ile272Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1004,
          "referenceAllele": "A",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000230882.8:c.814A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000230882.4:p.Ile272Val",
        "hgvsWellDefined": "ENSP00000230882.4:p.Ile272Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248766"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 759,
          "referenceAllele": "A",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000357703.6:c.748A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350335.3:p.Ile250Val",
        "hgvsWellDefined": "ENSP00000350335.3:p.Ile250Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264201"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 703,
          "referenceAllele": "A",
          "start": 702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000511135.5:c.*426A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422333.1:n.*426A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341469"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 862,
          "referenceAllele": "A",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000537449.5:c.814A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442206.2:p.Ile272Val",
        "hgvsWellDefined": "ENSP00000442206.2:p.Ile272Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360777"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1142,
          "referenceAllele": "A",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000612382.4:c.814A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478332.1:p.Ile272Val",
        "hgvsWellDefined": "ENSP00000478332.1:p.Ile272Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401285"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 967,
          "referenceAllele": "A",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000612626.4:c.814A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479846.1:p.Ile272Val",
        "hgvsWellDefined": "ENSP00000479846.1:p.Ile272Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401383"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1257,
          "referenceAllele": "A",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000615111.4:c.814A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478291.1:p.Ile272Val",
        "hgvsWellDefined": "ENSP00000478291.1:p.Ile272Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402478"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 934,
          "referenceAllele": "A",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000618088.4:c.814A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482373.1:p.Ile272Val",
        "hgvsWellDefined": "ENSP00000482373.1:p.Ile272Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403781"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 972,
          "referenceAllele": "A",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000620156.4:c.835A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483403.1:p.Ile279Val",
        "hgvsWellDefined": "ENSP00000483403.1:p.Ile279Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404699"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 825,
          "referenceAllele": "A",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000622294.2:c.814A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483926.1:p.Ile272Val",
        "hgvsWellDefined": "ENSP00000483926.1:p.Ile272Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825075802",
      "coordinates": [
        {
          "allele": "G",
          "end": 1006,
          "referenceAllele": "A",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_000163.4:c.814A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000154.1:p.Ile272Val",
        "hgvsWellDefined": "NP_000154.1:p.Ile272Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139693052",
      "coordinates": [
        {
          "allele": "G",
          "end": 972,
          "referenceAllele": "A",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242399.2:c.835A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229328.1:p.Ile279Val",
        "hgvsWellDefined": "NP_001229328.1:p.Ile279Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826299015",
      "coordinates": [
        {
          "allele": "G",
          "end": 1257,
          "referenceAllele": "A",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242400.2:c.814A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229329.1:p.Ile272Val",
        "hgvsWellDefined": "NP_001229329.1:p.Ile272Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826299320",
      "coordinates": [
        {
          "allele": "G",
          "end": 965,
          "referenceAllele": "A",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242401.3:c.814A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229330.1:p.Ile272Val",
        "hgvsWellDefined": "NP_001229330.1:p.Ile272Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826299626",
      "coordinates": [
        {
          "allele": "G",
          "end": 934,
          "referenceAllele": "A",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242402.2:c.814A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229331.1:p.Ile272Val",
        "hgvsWellDefined": "NP_001229331.1:p.Ile272Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826299933",
      "coordinates": [
        {
          "allele": "G",
          "end": 1142,
          "referenceAllele": "A",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242403.2:c.814A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229332.1:p.Ile272Val",
        "hgvsWellDefined": "NP_001229332.1:p.Ile272Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826300238",
      "coordinates": [
        {
          "allele": "G",
          "end": 967,
          "referenceAllele": "A",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242404.2:c.814A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229333.1:p.Ile272Val",
        "hgvsWellDefined": "NP_001229333.1:p.Ile272Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018108"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826300545",
      "coordinates": [
        {
          "allele": "G",
          "end": 862,
          "referenceAllele": "A",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242405.2:c.814A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229334.1:p.Ile272Val",
        "hgvsWellDefined": "NP_001229334.1:p.Ile272Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018109"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826300850",
      "coordinates": [
        {
          "allele": "G",
          "end": 1228,
          "referenceAllele": "A",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242406.2:c.814A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229335.1:p.Ile272Val",
        "hgvsWellDefined": "NP_001229335.1:p.Ile272Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018110"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826301347",
      "coordinates": [
        {
          "allele": "G",
          "end": 759,
          "referenceAllele": "A",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242460.1:c.748A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229389.1:p.Ile250Val",
        "hgvsWellDefined": "NP_001229389.1:p.Ile250Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826301649",
      "coordinates": [
        {
          "allele": "G",
          "end": 825,
          "referenceAllele": "A",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242462.1:c.814A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229391.1:p.Ile272Val",
        "hgvsWellDefined": "NP_001229391.1:p.Ile272Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018124"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 784,
          "referenceAllele": "A",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "XM_011514031.1:c.769A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512333.1:p.Ile257Val",
        "hgvsWellDefined": "XP_011512333.1:p.Ile257Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825075802",
      "coordinates": [
        {
          "allele": "G",
          "end": 1342,
          "referenceAllele": "A",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_000163.5:c.814A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000154.1:p.Ile272Val",
        "hgvsWellDefined": "NP_000154.1:p.Ile272Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662336",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000230882.9:c.814A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000163.5:c.814A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000230882.4:p.Ile272Val"
          },
          "RefSeq": {
            "hgvs": "NP_000154.1:p.Ile272Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826299320",
      "coordinates": [
        {
          "allele": "G",
          "end": 976,
          "referenceAllele": "A",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242401.4:c.814A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229330.1:p.Ile272Val",
        "hgvsWellDefined": "NP_001229330.1:p.Ile272Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680063"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826299933",
      "coordinates": [
        {
          "allele": "G",
          "end": 905,
          "referenceAllele": "A",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242403.3:c.814A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229332.1:p.Ile272Val",
        "hgvsWellDefined": "NP_001229332.1:p.Ile272Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714315"
    }
  ],
  "type": "nucleotide"
}