{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10674928",
  "communityStandardTitle": [
    "NM_002227.4(JAK1):c.330-1796C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.65341002G>A?assembly=hg19",
        "id": "chr1:g.65341002G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.64875319G>A?assembly=hg38",
        "id": "chr1:g.64875319G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/310230",
        "rs": 310230
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-65341002-G-A?dataset=gnomad_r2_1",
        "id": "1-65341002-G-A",
        "variant": "1:65341002 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-64875319-G-A?dataset=gnomad_r3",
        "id": "1-64875319-G-A",
        "variant": "1:64875319 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-64875319-G-A?dataset=gnomad_r4",
        "id": "1-64875319-G-A",
        "variant": "1:64875319 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 64875319,
          "referenceAllele": "G",
          "start": 64875318
        }
      ],
      "hgvs": [
        "NC_000001.11:g.64875319G>A",
        "CM000663.2:g.64875319G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 65341002,
          "referenceAllele": "G",
          "start": 65341001
        }
      ],
      "hgvs": [
        "NC_000001.10:g.65341002G>A",
        "CM000663.1:g.65341002G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 65113590,
          "referenceAllele": "G",
          "start": 65113589
        }
      ],
      "hgvs": [
        "NC_000001.9:g.65113590G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 96186,
          "referenceAllele": "C",
          "start": 96185
        }
      ],
      "hgvs": [
        "NG_023402.1:g.96186C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003843"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 197428,
          "referenceAllele": "C",
          "start": 197427
        }
      ],
      "hgvs": [
        "NG_023402.2:g.197428C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616267"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 795,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 795,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000671746.2:c.*238-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500065.1:n.*238-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 726,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 726,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000671929.2:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500485.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 637,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000671954.2:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500841.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 445,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 445,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000672179.2:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500296.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000672247.2:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499884.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 794,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 794,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000672434.2:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499900.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 643,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 643,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000672574.2:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500714.2:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 557,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 557,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000672751.2:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500745.2:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 625,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 625,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000673246.2:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499942.2:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 638,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 638,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000673314.2:n.639-1796C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 780,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 780,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000673502.2:n.781-1796C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 710,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 710,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000699259.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514240.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 643,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 643,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000699260.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514241.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 638,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 638,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000699261.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514242.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910201"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 546,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000699262.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514243.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910202"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 726,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 726,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000699263.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514244.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910203"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 625,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 625,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000699310.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514289.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 638,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 638,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000699311.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514290.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 710,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 710,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000699312.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514291.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 638,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 638,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000699313.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514292.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1313,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 1313,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000699314.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514294.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 623,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000342505.5:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343204.4:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748067",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342505.5:c.330-1796C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002227.4:c.330-1796C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343204.4:n.330-1796C>T"
          },
          "RefSeq": {
            "hgvs": "NP_002218.2:n.330-1796C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 795,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 795,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000671746.1:c.*238-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500065.1:n.*238-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 726,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 726,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000671929.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500485.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 637,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000671954.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500841.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773222"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 838,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 838,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000672099.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500328.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773271"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 445,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 445,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000672179.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500296.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 606,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 606,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000672247.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499884.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 794,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 794,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000672434.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499900.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 557,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 557,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000672751.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500745.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 444,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 444,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000673046.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500878.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773580"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1781,
          "referenceAllele": "C",
          "start": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000673220.1:c.*1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500422.1:n.*1094C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773618"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 626,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 626,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000673254.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500476.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 435,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000673314.1:n.436-1796C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773647"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 780,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 780,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000673502.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500011.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 578,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 578,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "ENST00000342505.4:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343204.4:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 578,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 578,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "NM_002227.2:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002218.2:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027547"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 436,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 436,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "XM_005270841.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270898.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066681"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 490,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "XM_006710624.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710687.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 588,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 588,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "XM_011541395.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539697.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 546,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "NM_001320923.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307852.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513902"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 549,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 549,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "NM_001321852.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308781.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 808,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 808,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "NM_001321853.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308782.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 724,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 724,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "NM_001321854.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308783.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 727,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 727,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "NM_001321855.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308784.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 462,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 462,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "NM_001321856.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308785.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 643,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 643,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "NM_001321857.1:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308786.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 643,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 643,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "NM_002227.3:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002218.2:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524973"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 623,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "NM_002227.4:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002218.2:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665421",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342505.5:c.330-1796C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002227.4:c.330-1796C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343204.4:n.330-1796C>T"
          },
          "RefSeq": {
            "hgvs": "NP_002218.2:n.330-1796C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 549,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 549,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "NM_001321852.2:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308781.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 808,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 808,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "NM_001321853.2:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308782.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 724,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 724,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "NM_001321854.2:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308783.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 707,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 707,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "NM_001321855.2:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308784.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 623,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "NM_001321857.2:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308786.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685519"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 546,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "NM_001320923.2:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307852.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717863"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 462,
          "endIntronDirection": "-",
          "endIntronOffset": 1795,
          "referenceAllele": "C",
          "start": 462,
          "startIntronDirection": "-",
          "startIntronOffset": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "NM_001321856.2:c.330-1796C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308785.1:n.330-1796C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718014"
    }
  ],
  "type": "nucleotide"
}