{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA748501605",
  "communityStandardTitle": [
    "NM_001330994.2(GRIK1):c.1251+1338G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.30967508C>T?assembly=hg19",
        "id": "chr21:g.30967508C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.29595188C>T?assembly=hg38",
        "id": "chr21:g.29595188C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2832407",
        "rs": 2832407
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-29595188-C-T?dataset=gnomad_r3",
        "id": "21-29595188-C-T",
        "variant": "21:29595188 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-29595188-C-T?dataset=gnomad_r4",
        "id": "21-29595188-C-T",
        "variant": "21:29595188 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 29595188,
          "referenceAllele": "C",
          "start": 29595187
        }
      ],
      "hgvs": [
        "NC_000021.9:g.29595188C>T",
        "CM000683.2:g.29595188C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 30967508,
          "referenceAllele": "C",
          "start": 30967507
        }
      ],
      "hgvs": [
        "NC_000021.8:g.30967508C>T",
        "CM000683.1:g.30967508C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 29889379,
          "referenceAllele": "C",
          "start": 29889378
        }
      ],
      "hgvs": [
        "NC_000021.7:g.29889379C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1747,
          "endIntronDirection": "+",
          "endIntronOffset": 1338,
          "referenceAllele": "G",
          "start": 1747,
          "startIntronDirection": "+",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "ENST00000399907.6:c.1251+1338G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382791.1:n.1251+1338G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904637"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1747,
          "endIntronDirection": "+",
          "endIntronOffset": 1338,
          "referenceAllele": "G",
          "start": 1747,
          "startIntronDirection": "+",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "ENST00000327783.9:c.1251+1338G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327687.4:n.1251+1338G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823898",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327783.9:c.1251+1338G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001330994.2:c.1251+1338G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327687.4:n.1251+1338G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001317923.1:n.1251+1338G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1134,
          "endIntronDirection": "+",
          "endIntronOffset": 1338,
          "referenceAllele": "G",
          "start": 1134,
          "startIntronDirection": "+",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "ENST00000309434.8:c.1134+1338G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311646.8:n.1134+1338G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1283,
          "endIntronDirection": "+",
          "endIntronOffset": 1338,
          "referenceAllele": "G",
          "start": 1283,
          "startIntronDirection": "+",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "ENST00000327783.8:c.1251+1338G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327687.4:n.1251+1338G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258817"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1283,
          "endIntronDirection": "+",
          "endIntronOffset": 1338,
          "referenceAllele": "G",
          "start": 1283,
          "startIntronDirection": "+",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "ENST00000389124.6:c.1251+1338G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373776.2:n.1251+1338G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274152"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1331,
          "endIntronDirection": "+",
          "endIntronOffset": 3642,
          "referenceAllele": "G",
          "start": 1331,
          "startIntronDirection": "+",
          "startIntronOffset": 3641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "ENST00000389125.7:c.1206+3642G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373777.3:n.1206+3642G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274153"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1663,
          "endIntronDirection": "+",
          "endIntronOffset": 1338,
          "referenceAllele": "G",
          "start": 1663,
          "startIntronDirection": "+",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "ENST00000399907.5:c.1251+1338G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382791.1:n.1251+1338G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1618,
          "endIntronDirection": "+",
          "endIntronOffset": 3642,
          "referenceAllele": "G",
          "start": 1618,
          "startIntronDirection": "+",
          "startIntronOffset": 3641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "ENST00000399909.5:c.1206+3642G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382793.1:n.1206+3642G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1425,
          "endIntronDirection": "+",
          "endIntronOffset": 1338,
          "referenceAllele": "G",
          "start": 1425,
          "startIntronDirection": "+",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "ENST00000399913.5:c.1251+1338G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382797.1:n.1251+1338G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1728,
          "endIntronDirection": "+",
          "endIntronOffset": 3642,
          "referenceAllele": "G",
          "start": 1728,
          "startIntronDirection": "+",
          "startIntronOffset": 3641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "ENST00000399914.5:c.1206+3642G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382798.1:n.1206+3642G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278843"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 512,
          "endIntronDirection": "-",
          "endIntronOffset": 2381,
          "referenceAllele": "C",
          "start": 512,
          "startIntronDirection": "-",
          "startIntronOffset": 2382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000935",
      "geneNCBI_id": 571,
      "geneSymbol": "BACH1",
      "hgvs": [
        "ENST00000422809.5:c.513-2382C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS287450"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 325,
          "endIntronDirection": "-",
          "endIntronOffset": 2381,
          "referenceAllele": "C",
          "start": 325,
          "startIntronDirection": "-",
          "startIntronOffset": 2382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000935",
      "geneNCBI_id": 571,
      "geneSymbol": "BACH1",
      "hgvs": [
        "ENST00000468059.1:c.326-2382C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311056"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1089,
          "endIntronDirection": "+",
          "endIntronOffset": 3642,
          "referenceAllele": "G",
          "start": 1089,
          "startIntronDirection": "+",
          "startIntronOffset": 3641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "ENST00000535441.5:c.1089+3642G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446326.2:n.1089+3642G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359732"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1715,
          "endIntronDirection": "+",
          "endIntronOffset": 1338,
          "referenceAllele": "G",
          "start": 1715,
          "startIntronDirection": "+",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "NM_000830.3:c.1251+1338G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000821.1:n.1251+1338G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1670,
          "endIntronDirection": "+",
          "endIntronOffset": 3642,
          "referenceAllele": "G",
          "start": 1670,
          "startIntronDirection": "+",
          "startIntronOffset": 3641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "NM_175611.2:c.1206+3642G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_783300.1:n.1206+3642G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043178"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1376,
          "endIntronDirection": "+",
          "endIntronOffset": 3642,
          "referenceAllele": "G",
          "start": 1376,
          "startIntronDirection": "+",
          "startIntronOffset": 3641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "XM_005260942.1:c.1206+3642G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260999.1:n.1206+3642G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062985"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1421,
          "endIntronDirection": "+",
          "endIntronOffset": 1338,
          "referenceAllele": "G",
          "start": 1421,
          "startIntronDirection": "+",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "XM_005260943.1:c.1251+1338G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261000.1:n.1251+1338G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062986"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1376,
          "endIntronDirection": "+",
          "endIntronOffset": 3642,
          "referenceAllele": "G",
          "start": 1376,
          "startIntronDirection": "+",
          "startIntronOffset": 3641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "XM_005260944.2:c.1206+3642G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261001.1:n.1206+3642G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1421,
          "endIntronDirection": "+",
          "endIntronOffset": 1338,
          "referenceAllele": "G",
          "start": 1421,
          "startIntronDirection": "+",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "XM_006723991.1:c.1251+1338G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724054.1:n.1251+1338G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1421,
          "endIntronDirection": "+",
          "endIntronOffset": 1338,
          "referenceAllele": "G",
          "start": 1421,
          "startIntronDirection": "+",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "XM_011529527.1:c.1251+1338G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527829.1:n.1251+1338G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096596"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1421,
          "endIntronDirection": "+",
          "endIntronOffset": 1338,
          "referenceAllele": "G",
          "start": 1421,
          "startIntronDirection": "+",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "XM_011529528.1:c.1251+1338G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527830.1:n.1251+1338G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096597"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1803,
          "endIntronDirection": "+",
          "endIntronOffset": 1338,
          "referenceAllele": "G",
          "start": 1803,
          "startIntronDirection": "+",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "NM_000830.4:c.1251+1338G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000821.1:n.1251+1338G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1803,
          "endIntronDirection": "+",
          "endIntronOffset": 1338,
          "referenceAllele": "G",
          "start": 1803,
          "startIntronDirection": "+",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "NM_001320616.1:c.1251+1338G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307545.1:n.1251+1338G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1590,
          "endIntronDirection": "+",
          "endIntronOffset": 3642,
          "referenceAllele": "G",
          "start": 1590,
          "startIntronDirection": "+",
          "startIntronOffset": 3641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "NM_001320618.1:c.1038+3642G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307547.1:n.1038+3642G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513680"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1332,
          "endIntronDirection": "+",
          "endIntronOffset": 3642,
          "referenceAllele": "G",
          "start": 1332,
          "startIntronDirection": "+",
          "startIntronOffset": 3641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "NM_001320621.1:c.780+3642G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307550.1:n.780+3642G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513682"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1758,
          "endIntronDirection": "+",
          "endIntronOffset": 3642,
          "referenceAllele": "G",
          "start": 1758,
          "startIntronDirection": "+",
          "startIntronOffset": 3641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "NM_001330993.1:c.1206+3642G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317922.1:n.1206+3642G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1803,
          "endIntronDirection": "+",
          "endIntronOffset": 1338,
          "referenceAllele": "G",
          "start": 1803,
          "startIntronDirection": "+",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "NM_001330994.1:c.1251+1338G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317923.1:n.1251+1338G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1376,
          "endIntronDirection": "+",
          "endIntronOffset": 3642,
          "referenceAllele": "G",
          "start": 1376,
          "startIntronDirection": "+",
          "startIntronOffset": 3641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "XM_005260944.3:c.1206+3642G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261001.1:n.1206+3642G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535264"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1421,
          "endIntronDirection": "+",
          "endIntronOffset": 1338,
          "referenceAllele": "G",
          "start": 1421,
          "startIntronDirection": "+",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "XR_001754829.2:n.1421+1338G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1747,
          "endIntronDirection": "+",
          "endIntronOffset": 1338,
          "referenceAllele": "G",
          "start": 1747,
          "startIntronDirection": "+",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "NM_000830.5:c.1251+1338G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000821.1:n.1251+1338G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674960"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1747,
          "endIntronDirection": "+",
          "endIntronOffset": 1338,
          "referenceAllele": "G",
          "start": 1747,
          "startIntronDirection": "+",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "NM_001320616.2:c.1251+1338G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307545.1:n.1251+1338G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684976"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1534,
          "endIntronDirection": "+",
          "endIntronOffset": 3642,
          "referenceAllele": "G",
          "start": 1534,
          "startIntronDirection": "+",
          "startIntronOffset": 3641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "NM_001320618.2:c.1038+3642G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307547.1:n.1038+3642G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684977"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1276,
          "endIntronDirection": "+",
          "endIntronOffset": 3642,
          "referenceAllele": "G",
          "start": 1276,
          "startIntronDirection": "+",
          "startIntronOffset": 3641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "NM_001320621.2:c.780+3642G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307550.1:n.780+3642G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684979"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1702,
          "endIntronDirection": "+",
          "endIntronOffset": 3642,
          "referenceAllele": "G",
          "start": 1702,
          "startIntronDirection": "+",
          "startIntronOffset": 3641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "NM_001330993.2:c.1206+3642G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317922.1:n.1206+3642G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1747,
          "endIntronDirection": "+",
          "endIntronOffset": 1338,
          "referenceAllele": "G",
          "start": 1747,
          "startIntronDirection": "+",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "NM_001330994.2:c.1251+1338G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317923.1:n.1251+1338G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687128",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327783.9:c.1251+1338G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001330994.2:c.1251+1338G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327687.4:n.1251+1338G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001317923.1:n.1251+1338G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1702,
          "endIntronDirection": "+",
          "endIntronOffset": 3642,
          "referenceAllele": "G",
          "start": 1702,
          "startIntronDirection": "+",
          "startIntronOffset": 3641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "NM_175611.3:c.1206+3642G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_783300.1:n.1206+3642G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700722"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1747,
          "endIntronDirection": "+",
          "endIntronOffset": 1338,
          "referenceAllele": "G",
          "start": 1747,
          "startIntronDirection": "+",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "NM_000830.6:c.1251+1338G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000821.1:n.1251+1338G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1702,
          "endIntronDirection": "+",
          "endIntronOffset": 3642,
          "referenceAllele": "G",
          "start": 1702,
          "startIntronDirection": "+",
          "startIntronOffset": 3641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "NM_001393424.1:c.1206+3642G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001380353.1:n.1206+3642G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS726585"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1747,
          "endIntronDirection": "+",
          "endIntronOffset": 1338,
          "referenceAllele": "G",
          "start": 1747,
          "startIntronDirection": "+",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "NM_001393425.1:c.1251+1338G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001380354.1:n.1251+1338G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS726586"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1579,
          "endIntronDirection": "+",
          "endIntronOffset": 1338,
          "referenceAllele": "G",
          "start": 1579,
          "startIntronDirection": "+",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004579",
      "geneNCBI_id": 2897,
      "geneSymbol": "GRIK1",
      "hgvs": [
        "NM_001393426.1:c.1083+1338G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001380355.1:n.1083+1338G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS726587"
    }
  ],
  "type": "nucleotide"
}