{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5361230",
  "communityStandardTitle": [
    "NM_007327.4(GRIN1):c.2799C>T (p.Ser933=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4657524",
        "active": true,
        "id": "COSM4657524"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=372907[alleleid]",
        "alleleId": 372907,
        "preferredName": "NM_007327.4(GRIN1):c.2799C>T (p.Ser933=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/383068",
        "RCV": [
          "RCV000435573",
          "RCV000474024",
          "RCV001092465",
          "RCV002436281"
        ],
        "variationId": 383068
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-140061961-C-T",
        "id": "9-140061961-C-T",
        "variant": "9:140061961 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.140061961C>T?assembly=hg19",
        "id": "chr9:g.140061961C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.137167509C>T?assembly=hg38",
        "id": "chr9:g.137167509C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201012245",
        "rs": 201012245
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-140061961-C-T?dataset=gnomad_r2_1",
        "id": "9-140061961-C-T",
        "variant": "9:140061961 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-137167509-C-T?dataset=gnomad_r3",
        "id": "9-137167509-C-T",
        "variant": "9:137167509 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-137167509-C-T?dataset=gnomad_r4",
        "id": "9-137167509-C-T",
        "variant": "9:137167509 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 137167509,
          "referenceAllele": "C",
          "start": 137167508
        }
      ],
      "hgvs": [
        "NC_000009.12:g.137167509C>T",
        "CM000671.2:g.137167509C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 140061961,
          "referenceAllele": "C",
          "start": 140061960
        }
      ],
      "hgvs": [
        "NC_000009.11:g.140061961C>T",
        "CM000671.1:g.140061961C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 139181782,
          "referenceAllele": "C",
          "start": 139181781
        }
      ],
      "hgvs": [
        "NC_000009.10:g.139181782C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 33353,
          "referenceAllele": "C",
          "start": 33352
        }
      ],
      "hgvs": [
        "NG_011507.1:g.33353C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001774"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3096,
          "endIntronDirection": "-",
          "endIntronOffset": 264,
          "referenceAllele": "C",
          "start": 3096,
          "startIntronDirection": "-",
          "startIntronOffset": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "ENST00000371553.8:c.2764-265C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360608.3:n.2764-265C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904511"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3793,
          "endIntronDirection": "-",
          "endIntronOffset": 264,
          "referenceAllele": "C",
          "start": 3793,
          "startIntronDirection": "-",
          "startIntronOffset": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "ENST00000371560.5:c.2653-265C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360615.3:n.2653-265C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904512"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3132,
          "referenceAllele": "C",
          "start": 3131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "ENST00000371561.8:c.2799C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360616.3:p.Ser933="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750813",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371561.8:c.2799C>T"
          },
          "RefSeq": {
            "hgvs": "NM_007327.4:c.2799C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360616.3:p.Ser933="
          },
          "RefSeq": {
            "hgvs": "NP_015566.1:p.Ser933="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2868,
          "referenceAllele": "C",
          "start": 2867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "ENST00000371546.8:c.2862C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360601.4:p.Ser954="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2694,
          "referenceAllele": "C",
          "start": 2693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "ENST00000371550.8:c.2688C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360605.4:p.Ser896="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268639"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2769,
          "endIntronDirection": "-",
          "endIntronOffset": 264,
          "referenceAllele": "C",
          "start": 2769,
          "startIntronDirection": "-",
          "startIntronOffset": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "ENST00000371553.7:c.2764-265C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360608.3:n.2764-265C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2757,
          "referenceAllele": "C",
          "start": 2756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "ENST00000371555.8:c.2751C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360610.4:p.Ser917="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268643"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2595,
          "endIntronDirection": "-",
          "endIntronOffset": 264,
          "referenceAllele": "C",
          "start": 2595,
          "startIntronDirection": "-",
          "startIntronOffset": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "ENST00000371559.8:c.2590-265C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360614.4:n.2590-265C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2658,
          "endIntronDirection": "-",
          "endIntronOffset": 264,
          "referenceAllele": "C",
          "start": 2658,
          "startIntronDirection": "-",
          "startIntronOffset": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "ENST00000371560.4:c.2653-265C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360615.3:n.2653-265C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268646"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3896,
          "referenceAllele": "C",
          "start": 3895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "ENST00000371561.7:c.2799C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360616.3:p.Ser933="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268647"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 279,
          "referenceAllele": "C",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "ENST00000473811.1:n.279C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2919,
          "endIntronDirection": "-",
          "endIntronOffset": 264,
          "referenceAllele": "C",
          "start": 2919,
          "startIntronDirection": "-",
          "startIntronOffset": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "NM_000832.6:c.2590-265C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000823.4:n.2590-265C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006861"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3093,
          "endIntronDirection": "-",
          "endIntronOffset": 264,
          "referenceAllele": "C",
          "start": 3093,
          "startIntronDirection": "-",
          "startIntronOffset": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "NM_001185090.1:c.2764-265C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001172019.1:n.2764-265C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2982,
          "endIntronDirection": "-",
          "endIntronOffset": 264,
          "referenceAllele": "C",
          "start": 2982,
          "startIntronDirection": "-",
          "startIntronOffset": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "NM_001185091.1:c.2653-265C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001172020.1:n.2653-265C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016108"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829715649",
      "coordinates": [
        {
          "allele": "T",
          "end": 3129,
          "referenceAllele": "C",
          "start": 3128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "NM_007327.3:c.2799C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_015566.1:p.Ser933="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032230"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829977572",
      "coordinates": [
        {
          "allele": "T",
          "end": 3018,
          "referenceAllele": "C",
          "start": 3017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "NM_021569.3:c.2688C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_067544.1:p.Ser896="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036966"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3034,
          "endIntronDirection": "-",
          "endIntronOffset": 264,
          "referenceAllele": "C",
          "start": 3034,
          "startIntronDirection": "-",
          "startIntronOffset": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "XM_005266071.2:c.2701-265C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266128.1:n.2701-265C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3085,
          "referenceAllele": "C",
          "start": 3084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "XM_005266072.2:c.2751C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266129.1:p.Ser917="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064909"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3237,
          "referenceAllele": "C",
          "start": 3236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "XM_005266073.3:c.2862C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266130.1:p.Ser954="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2700,
          "endIntronDirection": "-",
          "endIntronOffset": 264,
          "referenceAllele": "C",
          "start": 2700,
          "startIntronDirection": "-",
          "startIntronOffset": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "XM_005266071.3:c.2701-265C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266128.1:n.2701-265C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536166"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3085,
          "referenceAllele": "C",
          "start": 3084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "XM_005266072.3:c.2751C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266129.1:p.Ser917="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3257,
          "referenceAllele": "C",
          "start": 3256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "XM_005266073.4:c.2862C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266130.1:p.Ser954="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829715649",
      "coordinates": [
        {
          "allele": "T",
          "end": 3132,
          "referenceAllele": "C",
          "start": 3131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "NM_007327.4:c.2799C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_015566.1:p.Ser933="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667853",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371561.8:c.2799C>T"
          },
          "RefSeq": {
            "hgvs": "NM_007327.4:c.2799C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360616.3:p.Ser933="
          },
          "RefSeq": {
            "hgvs": "NP_015566.1:p.Ser933="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2922,
          "endIntronDirection": "-",
          "endIntronOffset": 264,
          "referenceAllele": "C",
          "start": 2922,
          "startIntronDirection": "-",
          "startIntronOffset": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "NM_000832.7:c.2590-265C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000823.4:n.2590-265C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674961"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3096,
          "endIntronDirection": "-",
          "endIntronOffset": 264,
          "referenceAllele": "C",
          "start": 3096,
          "startIntronDirection": "-",
          "startIntronOffset": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "NM_001185090.2:c.2764-265C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001172019.1:n.2764-265C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2985,
          "endIntronDirection": "-",
          "endIntronOffset": 264,
          "referenceAllele": "C",
          "start": 2985,
          "startIntronDirection": "-",
          "startIntronOffset": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "NM_001185091.2:c.2653-265C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001172020.1:n.2653-265C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679074"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829977572",
      "coordinates": [
        {
          "allele": "T",
          "end": 3021,
          "referenceAllele": "C",
          "start": 3020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "NM_021569.4:c.2688C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_067544.1:p.Ser896="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698416"
    }
  ],
  "type": "nucleotide"
}