{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2573331822",
  "communityStandardTitle": [
    "NM_002972.4(SBF1):c.5583+3G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1709613[alleleid]",
        "alleleId": 1709613,
        "preferredName": "NM_002972.4(SBF1):c.5583+3G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1711197",
        "RCV": [
          "RCV002292713"
        ],
        "variationId": 1711197
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2521722265",
        "rs": 2521722265
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 50447319,
          "referenceAllele": "C",
          "start": 50447318
        }
      ],
      "hgvs": [
        "NC_000022.11:g.50447319C>G",
        "CM000684.2:g.50447319C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 50885748,
          "referenceAllele": "C",
          "start": 50885747
        }
      ],
      "hgvs": [
        "NC_000022.10:g.50885748C>G",
        "CM000684.1:g.50885748C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 49232614,
          "referenceAllele": "C",
          "start": 49232613
        }
      ],
      "hgvs": [
        "NC_000022.9:g.49232614C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 32753,
          "referenceAllele": "G",
          "start": 32752
        }
      ],
      "hgvs": [
        "NG_041810.1:g.32753G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005880"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5690,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5690,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000348911.11:c.5505+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252027.8:n.5505+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824055"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1179,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 1179,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000418590.4:c.1179+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401538.2:n.1179+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824675"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1986,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 1986,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000470434.2:n.1986+3G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825206"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 722,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 722,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000473724.2:n.722+3G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825243"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5771,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5771,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000684986.1:c.5586+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509117.1:n.5586+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829825"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3197,
          "referenceAllele": "G",
          "start": 3196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000685180.1:n.3197G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829926"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3534,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 3534,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000685390.1:n.3534+3G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830043"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1956,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 1956,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000685411.1:n.1956+3G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830056"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 738,
          "referenceAllele": "G",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000685459.1:c.738G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509511.1:p.Val246="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1833,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 1833,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000685592.1:c.1833+3G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830160"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5697,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5697,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000685809.1:c.5496+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508863.1:n.5496+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4783,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 4783,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000686191.1:n.4783+3G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830445"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5758,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5758,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000686222.1:c.*5005+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508737.1:n.*5005+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830461"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1896,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 1896,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000686321.1:c.1896+3G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830513"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5584,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5584,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000686427.1:c.*2515+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510379.1:n.*2515+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3397,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 3397,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000686758.1:n.3397+3G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830726"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5753,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5753,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000686801.1:c.*421+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509915.1:n.*421+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830752"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1902,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 1902,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000686826.1:n.1902+3G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830765"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5657,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5657,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000687016.1:c.5481+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509074.1:n.5481+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830861"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5709,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5709,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000687704.1:c.*3379+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510454.1:n.*3379+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831224"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5753,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5753,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000688066.1:c.5583+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510782.1:n.5583+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5642,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5642,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000688124.1:c.*4484+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510645.1:n.*4484+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831452"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 704,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 704,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000688381.1:c.704+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508847.1:n.704+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831597"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5656,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5656,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000688848.1:c.*4927+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509419.1:n.*4927+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831853"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2584,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 2584,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000688985.1:c.2584+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510477.1:n.2584+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831929"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5739,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5739,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000689129.1:c.5508+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510414.1:n.5508+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6920,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 6920,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000689177.1:n.6920+3G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832035"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1668,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 1668,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000689849.1:c.1668+3G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5778,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5778,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000689981.1:c.5583+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509035.1:n.5583+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832474"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 101,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 101,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000690197.1:c.101+3G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832580"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5601,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5601,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000690369.1:n.5601+3G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832663"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2630,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 2630,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000690590.1:n.2630+3G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832776"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5756,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5756,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000690990.1:c.5577+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510461.1:n.5577+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832981"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5695,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5695,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000691233.1:c.5502+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509215.1:n.5502+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833113"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2913,
          "referenceAllele": "G",
          "start": 2912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000691345.1:n.2913G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5758,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5758,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000691792.1:c.5568+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509911.1:n.5568+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833383"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6925,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 6925,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000691959.1:n.6925+3G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833464"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2667,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 2667,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000692844.1:n.2667+3G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833918"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 1679,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000692946.1:c.1679+3G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833974"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5767,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5767,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000693052.1:c.5601+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509558.1:n.5601+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834038"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 666,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 666,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000693068.1:c.666+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509997.1:n.666+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834046"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5752,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5752,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000693440.1:c.5580+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509462.1:n.5580+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834248"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4391,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 4391,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000693591.1:n.4391+3G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834323"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5778,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5778,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000380817.8:c.5583+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370196.2:n.5583+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752445",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380817.8:c.5583+3G>C"
          },
          "RefSeq": {
            "hgvs": "NM_002972.4:c.5583+3G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370196.2:n.5583+3G>C"
          },
          "RefSeq": {
            "hgvs": "NP_002963.2:n.5583+3G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5610,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5610,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000348911.10:c.5508+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252027.7:n.5508+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262523"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5767,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5767,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000380817.7:c.5583+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370196.2:n.5583+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273105"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1147,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 1147,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000418590.3:c.1147+3G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS285472"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1724,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 1724,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000470434.1:n.1724+3G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312871"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 288,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 288,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "ENST00000473724.1:n.288+3G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315403"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5814,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5814,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "NM_002972.3:c.5583+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002963.2:n.5583+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028255"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5784,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5784,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "XM_005261931.1:c.5586+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261988.1:n.5586+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063272"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5703,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5703,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "XM_005261935.1:c.5505+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261992.1:n.5505+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063273"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5700,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5700,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "XM_011530707.1:c.5685+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529009.1:n.5685+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097750"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5652,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5652,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "XM_011530708.1:c.5637+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529010.1:n.5637+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097751"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5628,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5628,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "XM_011530709.1:c.5613+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529011.1:n.5613+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097752"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5625,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5625,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "XM_011530710.1:c.5610+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529012.1:n.5610+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097753"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5625,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5625,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "XM_011530711.1:c.5610+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529013.1:n.5610+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097754"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5703,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5703,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "XR_938344.1:n.5703+3G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133042"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5703,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5703,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "NM_001365819.1:c.5508+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352748.1:n.5508+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524273"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5684,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5684,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "XM_005261935.2:c.5505+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261992.1:n.5505+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535391"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5632,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5632,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "XM_011530709.2:c.5613+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529011.1:n.5613+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550074"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5628,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5628,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "XM_011530710.2:c.5610+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529012.1:n.5610+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550075"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5554,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5554,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "XM_017028905.2:c.5535+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884394.1:n.5535+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578545"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5778,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 5778,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "NM_002972.4:c.5583+3G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002963.2:n.5583+3G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665807",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380817.8:c.5583+3G>C"
          },
          "RefSeq": {
            "hgvs": "NM_002972.4:c.5583+3G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370196.2:n.5583+3G>C"
          },
          "RefSeq": {
            "hgvs": "NP_002963.2:n.5583+3G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}