{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10982933",
  "communityStandardTitle": [
    "NM_000831.4(GRIK3):c.1755-1020A>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.37286475T>C?assembly=hg19",
        "id": "chr1:g.37286475T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.36820874T>C?assembly=hg38",
        "id": "chr1:g.36820874T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/514262",
        "rs": 514262
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-37286475-T-C?dataset=gnomad_r2_1",
        "id": "1-37286475-T-C",
        "variant": "1:37286475 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-36820874-T-C?dataset=gnomad_r3",
        "id": "1-36820874-T-C",
        "variant": "1:36820874 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-36820874-T-C?dataset=gnomad_r4",
        "id": "1-36820874-T-C",
        "variant": "1:36820874 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 36820874,
          "referenceAllele": "T",
          "start": 36820873
        }
      ],
      "hgvs": [
        "NC_000001.11:g.36820874T>C",
        "CM000663.2:g.36820874T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 37286475,
          "referenceAllele": "T",
          "start": 37286474
        }
      ],
      "hgvs": [
        "NC_000001.10:g.37286475T>C",
        "CM000663.1:g.37286475T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 37059062,
          "referenceAllele": "T",
          "start": 37059061
        }
      ],
      "hgvs": [
        "NC_000001.9:g.37059062T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 218370,
          "referenceAllele": "A",
          "start": 218369
        }
      ],
      "hgvs": [
        "NG_011447.1:g.218370A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001725"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2161,
          "endIntronDirection": "-",
          "endIntronOffset": 1019,
          "referenceAllele": "A",
          "start": 2161,
          "startIntronDirection": "-",
          "startIntronOffset": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004581",
      "geneNCBI_id": 2899,
      "geneSymbol": "GRIK3",
      "hgvs": [
        "ENST00000373091.8:c.1755-1020A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362183.3:n.1755-1020A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373091.8:c.1755-1020A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000831.4:c.1755-1020A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362183.3:n.1755-1020A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000822.2:n.1755-1020A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1771,
          "endIntronDirection": "-",
          "endIntronOffset": 1019,
          "referenceAllele": "A",
          "start": 1771,
          "startIntronDirection": "-",
          "startIntronOffset": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004581",
      "geneNCBI_id": 2899,
      "geneSymbol": "GRIK3",
      "hgvs": [
        "ENST00000373091.7:c.1755-1020A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362183.3:n.1755-1020A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269492"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1775,
          "endIntronDirection": "-",
          "endIntronOffset": 1019,
          "referenceAllele": "A",
          "start": 1775,
          "startIntronDirection": "-",
          "startIntronOffset": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004581",
      "geneNCBI_id": 2899,
      "geneSymbol": "GRIK3",
      "hgvs": [
        "ENST00000373093.4:c.1755-1020A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362185.4:n.1755-1020A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1889,
          "endIntronDirection": "-",
          "endIntronOffset": 1019,
          "referenceAllele": "A",
          "start": 1889,
          "startIntronDirection": "-",
          "startIntronOffset": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004581",
      "geneNCBI_id": 2899,
      "geneSymbol": "GRIK3",
      "hgvs": [
        "NM_000831.3:c.1755-1020A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000822.2:n.1755-1020A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006860"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3896,
          "referenceAllele": "A",
          "start": 3895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004581",
      "geneNCBI_id": 2899,
      "geneSymbol": "GRIK3",
      "hgvs": [
        "XM_011541294.1:c.*1641A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539596.1:n.*1641A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108236"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 770,
          "endIntronDirection": "-",
          "endIntronOffset": 1019,
          "referenceAllele": "A",
          "start": 770,
          "startIntronDirection": "-",
          "startIntronOffset": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004581",
      "geneNCBI_id": 2899,
      "geneSymbol": "GRIK3",
      "hgvs": [
        "XM_011541295.1:c.660-1020A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539597.1:n.660-1020A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108237"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2161,
          "endIntronDirection": "-",
          "endIntronOffset": 1019,
          "referenceAllele": "A",
          "start": 2161,
          "startIntronDirection": "-",
          "startIntronOffset": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004581",
      "geneNCBI_id": 2899,
      "geneSymbol": "GRIK3",
      "hgvs": [
        "NM_000831.4:c.1755-1020A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000822.2:n.1755-1020A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662605",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373091.8:c.1755-1020A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000831.4:c.1755-1020A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362183.3:n.1755-1020A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000822.2:n.1755-1020A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}