{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8601892",
  "communityStandardTitle": [
    "NM_002087.4(GRN):c.462+24G>A"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSN18740786"
      },
      {
        "active": false,
        "id": "COSN18740894"
      },
      {
        "active": false,
        "id": "COSN18741009"
      },
      {
        "active": false,
        "id": "COSN18741117"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=549747[alleleid]",
        "alleleId": 549747,
        "preferredName": "NM_002087.4(GRN):c.462+24G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/558917",
        "RCV": [
          "RCV000675675"
        ],
        "variationId": 558917
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-42427732-G-A",
        "id": "17-42427732-G-A",
        "variant": "17:42427732 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42427732G>A?assembly=hg19",
        "id": "chr17:g.42427732G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44350364G>A?assembly=hg38",
        "id": "chr17:g.44350364G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/850713",
        "rs": 850713
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-42427732-G-A?dataset=gnomad_r2_1",
        "id": "17-42427732-G-A",
        "variant": "17:42427732 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44350364-G-A?dataset=gnomad_r3",
        "id": "17-44350364-G-A",
        "variant": "17:44350364 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44350364-G-A?dataset=gnomad_r4",
        "id": "17-44350364-G-A",
        "variant": "17:44350364 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 44350364,
          "referenceAllele": "G",
          "start": 44350363
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44350364G>A",
        "CM000679.2:g.44350364G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 42427732,
          "referenceAllele": "G",
          "start": 42427731
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42427732G>A",
        "CM000679.1:g.42427732G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 39783258,
          "referenceAllele": "G",
          "start": 39783257
        }
      ],
      "hgvs": [
        "NC_000017.9:g.39783258G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10242,
          "referenceAllele": "G",
          "start": 10241
        }
      ],
      "hgvs": [
        "NG_007886.1:g.10242G>A",
        "LRG_661:g.10242G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000693"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 502,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 502,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000053867.8:c.462+24G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000053867.2:n.462+24G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739997",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000053867.8:c.462+24G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002087.4:c.462+24G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000053867.2:n.462+24G>A"
          },
          "RefSeq": {
            "hgvs": "NP_002078.1:n.462+24G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 462,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 462,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000639447.1:c.462+24G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492014.1:n.462+24G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 718,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 718,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000053867.7:c.462+24G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000053867.2:n.462+24G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 490,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 490,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000586782.5:c.462+24G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468318.1:n.462+24G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 544,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 544,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000587387.5:c.504+24G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467431.1:n.504+24G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 518,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 518,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000588143.5:c.462+24G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465375.1:n.462+24G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390580"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 304,
          "endIntronDirection": "-",
          "endIntronOffset": 77,
          "referenceAllele": "G",
          "start": 304,
          "startIntronDirection": "-",
          "startIntronOffset": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000588237.5:c.265-78G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466611.1:n.265-78G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 499,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 499,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000589265.5:c.462+24G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467616.1:n.462+24G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391372"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 52,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 52,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000590984.1:n.52+24G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392572"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 718,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 718,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "NM_002087.3:c.462+24G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002078.1:n.462+24G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027411"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 763,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 763,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "XM_005257253.1:c.462+24G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257310.1:n.462+24G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 596,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 596,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "XM_024450730.1:c.462+24G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306498.1:n.462+24G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 502,
          "endIntronDirection": "+",
          "endIntronOffset": 24,
          "referenceAllele": "G",
          "start": 502,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "NM_002087.4:c.462+24G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002078.1:n.462+24G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000053867.8:c.462+24G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002087.4:c.462+24G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000053867.2:n.462+24G>A"
          },
          "RefSeq": {
            "hgvs": "NP_002078.1:n.462+24G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}