{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA11746519",
  "communityStandardTitle": [
    "NM_006017.3(PROM1):c.1767+485T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.15995125A>G?assembly=hg19",
        "id": "chr4:g.15995125A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.15993502A>G?assembly=hg38",
        "id": "chr4:g.15993502A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/17387100",
        "rs": 17387100
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-15995125-A-G?dataset=gnomad_r2_1",
        "id": "4-15995125-A-G",
        "variant": "4:15995125 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-15993502-A-G?dataset=gnomad_r3",
        "id": "4-15993502-A-G",
        "variant": "4:15993502 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-15993502-A-G?dataset=gnomad_r4",
        "id": "4-15993502-A-G",
        "variant": "4:15993502 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 15993502,
          "referenceAllele": "A",
          "start": 15993501
        }
      ],
      "hgvs": [
        "NC_000004.12:g.15993502A>G",
        "CM000666.2:g.15993502A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 15995125,
          "referenceAllele": "A",
          "start": 15995124
        }
      ],
      "hgvs": [
        "NC_000004.11:g.15995125A>G",
        "CM000666.1:g.15995125A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 15604223,
          "referenceAllele": "A",
          "start": 15604222
        }
      ],
      "hgvs": [
        "NC_000004.10:g.15604223A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 95499,
          "referenceAllele": "T",
          "start": 95498
        }
      ],
      "hgvs": [
        "NG_011696.1:g.95499T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001905"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 95558,
          "referenceAllele": "T",
          "start": 95557
        }
      ],
      "hgvs": [
        "NG_011696.2:g.95558T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706103"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2025,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2025,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "ENST00000447510.7:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415481.2:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756130",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000447510.7:c.1767+485T>C"
          },
          "RefSeq": {
            "hgvs": "NM_006017.3:c.1767+485T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000415481.2:n.1767+485T>C"
          },
          "RefSeq": {
            "hgvs": "NP_006008.1:n.1767+485T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1936,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 1936,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "ENST00000513946.2:c.*1450+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424738.2:n.*1450+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758341"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2153,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2153,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "ENST00000539194.6:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443620.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759588"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1740,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 1740,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "ENST00000540805.6:c.1740+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438045.2:n.1740+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759647"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1767,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 1767,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "ENST00000675377.1:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502545.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775207"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1740,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 1740,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "ENST00000675613.1:c.1740+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501741.1:n.1740+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775406"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1979,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 1979,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "ENST00000447510.6:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415481.2:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299274"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2353,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2353,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "ENST00000505450.5:c.1740+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426090.1:n.1740+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337238"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2020,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2020,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "ENST00000508167.5:c.1740+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427346.1:n.1740+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2016,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2016,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "ENST00000510224.5:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426809.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340795"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1979,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 1979,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "ENST00000539194.5:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443620.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361722"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1979,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 1979,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "ENST00000540805.5:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438045.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362601"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2259,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2259,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "NM_001145847.1:c.1740+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139319.1:n.1740+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1975,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 1975,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "NM_001145848.1:c.1740+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139320.1:n.1740+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013786"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1979,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 1979,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "NM_001145849.1:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139321.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1979,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 1979,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "NM_001145850.1:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139322.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013788"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1952,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 1952,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "NM_001145851.1:c.1740+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139323.1:n.1740+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013789"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1952,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 1952,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "NM_001145852.1:c.1740+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139324.1:n.1740+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013790"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1979,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 1979,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "NM_006017.2:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006008.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031062"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2075,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2075,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_005248195.3:c.1740+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248252.1:n.1740+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2075,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2075,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_005248196.3:c.1740+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248253.1:n.1740+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1548,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 1548,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_006713974.2:c.1533+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714037.1:n.1533+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2061,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2061,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_011513890.1:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512192.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2352,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2352,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_011513891.1:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512193.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2076,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2076,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_011513892.1:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512194.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2286,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2286,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_011513893.1:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512195.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2377,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2377,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_011513894.1:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512196.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081125"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2487,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2487,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_011513895.1:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512197.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2116,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2116,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_011513896.1:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512198.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2309,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2309,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_011513897.1:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512199.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2061,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2061,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_011513898.1:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512200.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081129"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2075,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2075,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_011513899.1:c.1740+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512201.1:n.1740+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2061,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2061,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_011513900.1:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512202.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081131"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2061,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2061,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_011513901.1:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512203.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2061,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2061,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_011513902.1:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512204.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1575,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 1575,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_011513903.1:c.1560+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512205.1:n.1560+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081134"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1509,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 1509,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_011513904.1:c.1494+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512206.1:n.1494+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081135"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2011,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2011,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_005248195.5:c.1740+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248252.1:n.1740+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2011,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2011,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_005248196.5:c.1740+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248253.1:n.1740+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1580,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 1580,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_006713974.3:c.1533+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714037.1:n.1533+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538623"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2212,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2212,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_011513892.2:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512194.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543078"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2286,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2286,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_011513893.2:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512195.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543079"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2213,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2213,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_011513894.3:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512196.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543080"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2487,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2487,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_011513895.2:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512197.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543081"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2116,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2116,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_011513896.2:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512198.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543082"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2304,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2304,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_011513897.3:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512199.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543083"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2061,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2061,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_011513900.2:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512202.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543084"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2061,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2061,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_011513902.2:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512204.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543085"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1610,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 1610,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_011513903.2:c.1560+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512205.1:n.1560+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543086"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2105,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2105,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_017008799.1:c.1740+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864288.1:n.1740+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563249"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2061,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2061,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_017008800.1:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864289.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563250"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2153,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2153,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_017008802.1:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864291.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563251"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2050,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2050,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_017008803.1:c.1740+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864292.1:n.1740+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2120,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2120,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_017008804.1:c.1740+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864293.1:n.1740+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563253"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1993,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 1993,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_017008805.1:c.1740+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864294.1:n.1740+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563254"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1955,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 1955,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "XM_024454276.1:c.1494+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310044.1:n.1494+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587644"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2017,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2017,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "NM_001145847.2:c.1740+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139319.1:n.1740+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677946"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1998,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 1998,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "NM_001145848.2:c.1740+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139320.1:n.1740+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677947"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1979,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 1979,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "NM_001145849.2:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139321.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677948"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2016,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2016,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "NM_001145850.2:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139322.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1952,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 1952,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "NM_001145851.2:c.1740+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139323.1:n.1740+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677950"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2017,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2017,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "NM_001145852.2:c.1740+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139324.1:n.1740+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1989,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 1989,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "NM_001371406.1:c.1740+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358335.1:n.1740+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692886"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2057,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2057,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "NM_001371407.1:c.1740+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358336.1:n.1740+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692887"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1989,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 1989,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "NM_001371408.1:c.1740+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358337.1:n.1740+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2025,
          "endIntronDirection": "+",
          "endIntronOffset": 485,
          "referenceAllele": "T",
          "start": 2025,
          "startIntronDirection": "+",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "NM_006017.3:c.1767+485T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006008.1:n.1767+485T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696586",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000447510.7:c.1767+485T>C"
          },
          "RefSeq": {
            "hgvs": "NM_006017.3:c.1767+485T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000415481.2:n.1767+485T>C"
          },
          "RefSeq": {
            "hgvs": "NP_006008.1:n.1767+485T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}