{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA384051272",
  "communityStandardTitle": [
    "NM_000834.5(GRIN2B):c.1821G>T (p.Trp607Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=904930[alleleid]",
        "alleleId": 904930,
        "preferredName": "NM_000834.5(GRIN2B):c.1821G>T (p.Trp607Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/916606",
        "RCV": [
          "RCV001172362"
        ],
        "variationId": 916606
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.13761726C>A?assembly=hg19",
        "id": "chr12:g.13761726C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.13608792C>A?assembly=hg38",
        "id": "chr12:g.13608792C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518700",
        "rs": 1057518700
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 13608792,
          "referenceAllele": "C",
          "start": 13608791
        }
      ],
      "hgvs": [
        "NC_000012.12:g.13608792C>A",
        "CM000674.2:g.13608792C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 13761726,
          "referenceAllele": "C",
          "start": 13761725
        }
      ],
      "hgvs": [
        "NC_000012.11:g.13761726C>A",
        "CM000674.1:g.13761726C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 13652993,
          "referenceAllele": "C",
          "start": 13652992
        }
      ],
      "hgvs": [
        "NC_000012.10:g.13652993C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 376297,
          "referenceAllele": "G",
          "start": 376296
        }
      ],
      "hgvs": [
        "NG_031854.1:g.376297G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 378221,
          "referenceAllele": "G",
          "start": 378220
        }
      ],
      "hgvs": [
        "NG_031854.2:g.378221G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616325"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2529,
          "referenceAllele": "G",
          "start": 2528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "ENST00000609686.4:c.1821G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477455.1:p.Trp607Cys",
        "hgvsWellDefined": "ENSP00000477455.1:p.Trp607Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761752",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000609686.4:c.1821G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000834.5:c.1821G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477455.1:p.Trp607Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000825.2:p.Trp607Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 81,
          "referenceAllele": "G",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "ENST00000628166.2:n.81G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2275,
          "referenceAllele": "G",
          "start": 2274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "ENST00000609686.3:c.1821G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477455.1:p.Trp607Cys",
        "hgvsWellDefined": "ENSP00000477455.1:p.Trp607Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400262"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 81,
          "referenceAllele": "G",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "ENST00000628166.1:n.81G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645374206",
      "coordinates": [
        {
          "allele": "T",
          "end": 2000,
          "referenceAllele": "G",
          "start": 1999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "NM_000834.3:c.1821G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000825.2:p.Trp607Cys",
        "hgvsWellDefined": "NP_000825.2:p.Trp607Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006863"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2567,
          "referenceAllele": "G",
          "start": 2566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520628.1:c.1821G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518930.1:p.Trp607Cys",
        "hgvsWellDefined": "XP_011518930.1:p.Trp607Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2590,
          "referenceAllele": "G",
          "start": 2589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520629.1:c.1821G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518931.1:p.Trp607Cys",
        "hgvsWellDefined": "XP_011518931.1:p.Trp607Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2358,
          "referenceAllele": "G",
          "start": 2357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520630.1:c.1821G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518932.1:p.Trp607Cys",
        "hgvsWellDefined": "XP_011518932.1:p.Trp607Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087796"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 178,
          "endIntronDirection": "-",
          "endIntronOffset": 6305,
          "referenceAllele": "C",
          "start": 178,
          "startIntronDirection": "-",
          "startIntronOffset": 6306
        }
      ],
      "hgvs": [
        "XR_931372.1:n.179-6306C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 318,
          "endIntronDirection": "+",
          "endIntronOffset": 35,
          "referenceAllele": "C",
          "start": 318,
          "startIntronDirection": "+",
          "startIntronOffset": 34
        }
      ],
      "hgvs": [
        "XR_931373.1:n.318+35C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127487"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645374206",
      "coordinates": [
        {
          "allele": "T",
          "end": 2268,
          "referenceAllele": "G",
          "start": 2267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "NM_000834.4:c.1821G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000825.2:p.Trp607Cys",
        "hgvsWellDefined": "NP_000825.2:p.Trp607Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2793,
          "referenceAllele": "G",
          "start": 2792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520628.2:c.1821G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518930.1:p.Trp607Cys",
        "hgvsWellDefined": "XP_011518930.1:p.Trp607Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2600,
          "referenceAllele": "G",
          "start": 2599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520629.2:c.1821G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518931.1:p.Trp607Cys",
        "hgvsWellDefined": "XP_011518931.1:p.Trp607Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2349,
          "referenceAllele": "G",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_017019219.2:c.1821G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874708.1:p.Trp607Cys",
        "hgvsWellDefined": "XP_016874708.1:p.Trp607Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570969"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "endIntronDirection": "+",
          "endIntronOffset": 35,
          "referenceAllele": "C",
          "start": 457,
          "startIntronDirection": "+",
          "startIntronOffset": 34
        }
      ],
      "hgvs": [
        "XR_001749013.1:n.457+35C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 315,
          "endIntronDirection": "-",
          "endIntronOffset": 6305,
          "referenceAllele": "C",
          "start": 315,
          "startIntronDirection": "-",
          "startIntronOffset": 6306
        }
      ],
      "hgvs": [
        "XR_931372.2:n.316-6306C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609877"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "endIntronDirection": "+",
          "endIntronOffset": 35,
          "referenceAllele": "C",
          "start": 457,
          "startIntronDirection": "+",
          "startIntronOffset": 34
        }
      ],
      "hgvs": [
        "XR_931373.2:n.457+35C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609878"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645374206",
      "coordinates": [
        {
          "allele": "T",
          "end": 2529,
          "referenceAllele": "G",
          "start": 2528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "NM_000834.5:c.1821G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000825.2:p.Trp607Cys",
        "hgvsWellDefined": "NP_000825.2:p.Trp607Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710879",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000609686.4:c.1821G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000834.5:c.1821G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477455.1:p.Trp607Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000825.2:p.Trp607Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}