{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8601997",
  "communityStandardTitle": [
    "NM_002087.4(GRN):c.709-12G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=880533[alleleid]",
        "alleleId": 880533,
        "preferredName": "NM_002087.4(GRN):c.709-12G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/890944",
        "RCV": [
          "RCV001125935",
          "RCV001579636",
          "RCV002070054"
        ],
        "variationId": 890944
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-42428393-G-C",
        "id": "17-42428393-G-C",
        "variant": "17:42428393 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42428393G>C?assembly=hg19",
        "id": "chr17:g.42428393G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44351025G>C?assembly=hg38",
        "id": "chr17:g.44351025G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/771557106",
        "rs": 771557106
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-42428393-G-C?dataset=gnomad_r2_1",
        "id": "17-42428393-G-C",
        "variant": "17:42428393 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44351025-G-C?dataset=gnomad_r3",
        "id": "17-44351025-G-C",
        "variant": "17:44351025 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44351025-G-C?dataset=gnomad_r4",
        "id": "17-44351025-G-C",
        "variant": "17:44351025 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 44351025,
          "referenceAllele": "G",
          "start": 44351024
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44351025G>C",
        "CM000679.2:g.44351025G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 42428393,
          "referenceAllele": "G",
          "start": 42428392
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42428393G>C",
        "CM000679.1:g.42428393G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 39783919,
          "referenceAllele": "G",
          "start": 39783918
        }
      ],
      "hgvs": [
        "NC_000017.9:g.39783919G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10903,
          "referenceAllele": "G",
          "start": 10902
        }
      ],
      "hgvs": [
        "NG_007886.1:g.10903G>C",
        "LRG_661:g.10903G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000693"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 748,
          "endIntronDirection": "-",
          "endIntronOffset": 11,
          "referenceAllele": "G",
          "start": 748,
          "startIntronDirection": "-",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000053867.8:c.709-12G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000053867.2:n.709-12G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739997",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000053867.8:c.709-12G>C"
          },
          "RefSeq": {
            "hgvs": "NM_002087.4:c.709-12G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000053867.2:n.709-12G>C"
          },
          "RefSeq": {
            "hgvs": "NP_002078.1:n.709-12G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 708,
          "endIntronDirection": "-",
          "endIntronOffset": 11,
          "referenceAllele": "G",
          "start": 708,
          "startIntronDirection": "-",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000639447.1:c.709-12G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492014.1:n.709-12G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765029"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 964,
          "endIntronDirection": "-",
          "endIntronOffset": 11,
          "referenceAllele": "G",
          "start": 964,
          "startIntronDirection": "-",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000053867.7:c.709-12G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000053867.2:n.709-12G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247560"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 115,
          "referenceAllele": "G",
          "start": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000585348.1:n.115G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388666"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 149,
          "endIntronDirection": "-",
          "endIntronOffset": 11,
          "referenceAllele": "G",
          "start": 149,
          "startIntronDirection": "-",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000586443.1:c.150-12G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389392"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 716,
          "endIntronDirection": "-",
          "endIntronOffset": 11,
          "referenceAllele": "G",
          "start": 716,
          "startIntronDirection": "-",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000586782.5:c.*119-12G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468318.1:n.*119-12G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389632"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 550,
          "endIntronDirection": "-",
          "endIntronOffset": 11,
          "referenceAllele": "G",
          "start": 550,
          "startIntronDirection": "-",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000588237.5:c.511-12G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466611.1:n.511-12G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 499,
          "endIntronDirection": "-",
          "endIntronOffset": 524,
          "referenceAllele": "G",
          "start": 499,
          "startIntronDirection": "-",
          "startIntronOffset": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000589265.5:c.463-525G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467616.1:n.463-525G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391372"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 29,
          "endIntronDirection": "-",
          "endIntronOffset": 11,
          "referenceAllele": "G",
          "start": 29,
          "startIntronDirection": "-",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000589923.1:n.30-12G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391833"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 298,
          "endIntronDirection": "-",
          "endIntronOffset": 11,
          "referenceAllele": "G",
          "start": 298,
          "startIntronDirection": "-",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000590984.1:n.299-12G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392572"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 964,
          "endIntronDirection": "-",
          "endIntronOffset": 11,
          "referenceAllele": "G",
          "start": 964,
          "startIntronDirection": "-",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "NM_002087.3:c.709-12G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002078.1:n.709-12G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027411"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1009,
          "endIntronDirection": "-",
          "endIntronOffset": 11,
          "referenceAllele": "G",
          "start": 1009,
          "startIntronDirection": "-",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "XM_005257253.1:c.709-12G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257310.1:n.709-12G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 842,
          "endIntronDirection": "-",
          "endIntronOffset": 11,
          "referenceAllele": "G",
          "start": 842,
          "startIntronDirection": "-",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "XM_024450730.1:c.709-12G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306498.1:n.709-12G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584261"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 748,
          "endIntronDirection": "-",
          "endIntronOffset": 11,
          "referenceAllele": "G",
          "start": 748,
          "startIntronDirection": "-",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "NM_002087.4:c.709-12G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002078.1:n.709-12G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000053867.8:c.709-12G>C"
          },
          "RefSeq": {
            "hgvs": "NM_002087.4:c.709-12G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000053867.2:n.709-12G>C"
          },
          "RefSeq": {
            "hgvs": "NP_002078.1:n.709-12G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}