{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8602146",
  "communityStandardTitle": [
    "NM_002087.4(GRN):c.1212C>T (p.Cys404=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=740812[alleleid]",
        "alleleId": 740812,
        "preferredName": "NM_002087.4(GRN):c.1212C>T (p.Cys404=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/733049",
        "RCV": [
          "RCV000908271"
        ],
        "variationId": 733049
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-42429415-C-T",
        "id": "17-42429415-C-T",
        "variant": "17:42429415 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42429415C>T?assembly=hg19",
        "id": "chr17:g.42429415C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44352047C>T?assembly=hg38",
        "id": "chr17:g.44352047C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193026789",
        "rs": 193026789
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-42429415-C-T?dataset=gnomad_r2_1",
        "id": "17-42429415-C-T",
        "variant": "17:42429415 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44352047-C-T?dataset=gnomad_r3",
        "id": "17-44352047-C-T",
        "variant": "17:44352047 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44352047-C-T?dataset=gnomad_r4",
        "id": "17-44352047-C-T",
        "variant": "17:44352047 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 44352047,
          "referenceAllele": "C",
          "start": 44352046
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44352047C>T",
        "CM000679.2:g.44352047C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 42429415,
          "referenceAllele": "C",
          "start": 42429414
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42429415C>T",
        "CM000679.1:g.42429415C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 39784941,
          "referenceAllele": "C",
          "start": 39784940
        }
      ],
      "hgvs": [
        "NC_000017.9:g.39784941C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11925,
          "referenceAllele": "C",
          "start": 11924
        }
      ],
      "hgvs": [
        "NG_007886.1:g.11925C>T",
        "LRG_661:g.11925C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000693"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1252,
          "referenceAllele": "C",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000053867.8:c.1212C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000053867.2:p.Cys404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739997",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000053867.8:c.1212C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002087.4:c.1212C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000053867.2:p.Cys404="
          },
          "RefSeq": {
            "hgvs": "NP_002078.1:p.Cys404="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1136,
          "endIntronDirection": "+",
          "endIntronOffset": 295,
          "referenceAllele": "C",
          "start": 1136,
          "startIntronDirection": "+",
          "startIntronOffset": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000639447.1:c.1136+295C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492014.1:n.1136+295C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1468,
          "referenceAllele": "C",
          "start": 1467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000053867.7:c.1212C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000053867.2:p.Cys404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 653,
          "referenceAllele": "C",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000586443.1:c.653C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 778,
          "referenceAllele": "C",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000589265.5:c.741C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467616.1:p.Cys247="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391372"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829356567",
      "coordinates": [
        {
          "allele": "T",
          "end": 1468,
          "referenceAllele": "C",
          "start": 1467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "NM_002087.3:c.1212C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002078.1:p.Cys404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1513,
          "referenceAllele": "C",
          "start": 1512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "XM_005257253.1:c.1212C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257310.1:p.Cys404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061634"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1346,
          "referenceAllele": "C",
          "start": 1345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "XM_024450730.1:c.1212C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306498.1:p.Cys404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584261"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829356567",
      "coordinates": [
        {
          "allele": "T",
          "end": 1252,
          "referenceAllele": "C",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "NM_002087.4:c.1212C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002078.1:p.Cys404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000053867.8:c.1212C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002087.4:c.1212C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000053867.2:p.Cys404="
          },
          "RefSeq": {
            "hgvs": "NP_002078.1:p.Cys404="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}