{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6460953",
  "communityStandardTitle": [
    "NM_000834.5(GRIN2B):c.3012C>T (p.Tyr1004=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2002705",
        "active": true,
        "id": "COSM2002705"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1079260[alleleid]",
        "alleleId": 1079260,
        "preferredName": "NM_000834.5(GRIN2B):c.3012C>T (p.Tyr1004=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1091584",
        "RCV": [
          "RCV001411123"
        ],
        "variationId": 1091584
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-13717160-G-A",
        "id": "12-13717160-G-A",
        "variant": "12:13717160 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.13717160G>A?assembly=hg19",
        "id": "chr12:g.13717160G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.13564226G>A?assembly=hg38",
        "id": "chr12:g.13564226G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201439880",
        "rs": 201439880
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-13717160-G-A?dataset=gnomad_r2_1",
        "id": "12-13717160-G-A",
        "variant": "12:13717160 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-13564226-G-A?dataset=gnomad_r3",
        "id": "12-13564226-G-A",
        "variant": "12:13564226 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-13564226-G-A?dataset=gnomad_r4",
        "id": "12-13564226-G-A",
        "variant": "12:13564226 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 13564226,
          "referenceAllele": "G",
          "start": 13564225
        }
      ],
      "hgvs": [
        "NC_000012.12:g.13564226G>A",
        "CM000674.2:g.13564226G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 13717160,
          "referenceAllele": "G",
          "start": 13717159
        }
      ],
      "hgvs": [
        "NC_000012.11:g.13717160G>A",
        "CM000674.1:g.13717160G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 13608427,
          "referenceAllele": "G",
          "start": 13608426
        }
      ],
      "hgvs": [
        "NC_000012.10:g.13608427G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 420863,
          "referenceAllele": "C",
          "start": 420862
        }
      ],
      "hgvs": [
        "NG_031854.1:g.420863C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 422787,
          "referenceAllele": "C",
          "start": 422786
        }
      ],
      "hgvs": [
        "NG_031854.2:g.422787C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616325"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3720,
          "referenceAllele": "C",
          "start": 3719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "ENST00000609686.4:c.3012C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477455.1:p.Tyr1004="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761752",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000609686.4:c.3012C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000834.5:c.3012C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477455.1:p.Tyr1004="
          },
          "RefSeq": {
            "hgvs": "NP_000825.2:p.Tyr1004="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 69,
          "endIntronDirection": "+",
          "endIntronOffset": 44377,
          "referenceAllele": "C",
          "start": 69,
          "startIntronDirection": "+",
          "startIntronOffset": 44376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "ENST00000637214.1:c.69+44377C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489997.1:n.69+44377C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3466,
          "referenceAllele": "C",
          "start": 3465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "ENST00000609686.3:c.3012C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477455.1:p.Tyr1004="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400262"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1272,
          "referenceAllele": "C",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "ENST00000628166.1:n.1272C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825238666",
      "coordinates": [
        {
          "allele": "T",
          "end": 3191,
          "referenceAllele": "C",
          "start": 3190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "NM_000834.3:c.3012C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000825.2:p.Tyr1004="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006863"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "referenceAllele": "C",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_005253351.2:c.798C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253408.1:p.Tyr266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3758,
          "referenceAllele": "C",
          "start": 3757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520628.1:c.3012C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518930.1:p.Tyr1004="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3781,
          "referenceAllele": "C",
          "start": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520629.1:c.3012C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518931.1:p.Tyr1004="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3549,
          "referenceAllele": "C",
          "start": 3548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520630.1:c.3012C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518932.1:p.Tyr1004="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087796"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825238666",
      "coordinates": [
        {
          "allele": "T",
          "end": 3459,
          "referenceAllele": "C",
          "start": 3458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "NM_000834.4:c.3012C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000825.2:p.Tyr1004="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 918,
          "referenceAllele": "C",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_005253351.3:c.798C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253408.1:p.Tyr266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3984,
          "referenceAllele": "C",
          "start": 3983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520628.2:c.3012C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518930.1:p.Tyr1004="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3791,
          "referenceAllele": "C",
          "start": 3790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520629.2:c.3012C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518931.1:p.Tyr1004="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3540,
          "referenceAllele": "C",
          "start": 3539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_017019219.2:c.3012C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874708.1:p.Tyr1004="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570969"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825238666",
      "coordinates": [
        {
          "allele": "T",
          "end": 3720,
          "referenceAllele": "C",
          "start": 3719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "NM_000834.5:c.3012C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000825.2:p.Tyr1004="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710879",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000609686.4:c.3012C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000834.5:c.3012C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477455.1:p.Tyr1004="
          },
          "RefSeq": {
            "hgvs": "NP_000825.2:p.Tyr1004="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}