{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8012587",
  "communityStandardTitle": [
    "NM_006662.3(SRCAP):c.7968C>T (p.Pro2656=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=740146[alleleid]",
        "alleleId": 740146,
        "preferredName": "NM_006662.3(SRCAP):c.7968C>T (p.Pro2656=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/732702",
        "RCV": [
          "RCV000907891"
        ],
        "variationId": 732702
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-30749329-C-T",
        "id": "16-30749329-C-T",
        "variant": "16:30749329 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.30749329C>T?assembly=hg19",
        "id": "chr16:g.30749329C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.30738008C>T?assembly=hg38",
        "id": "chr16:g.30738008C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/773890896",
        "rs": 773890896
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-30749329-C-T?dataset=gnomad_r2_1",
        "id": "16-30749329-C-T",
        "variant": "16:30749329 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-30738008-C-T?dataset=gnomad_r4",
        "id": "16-30738008-C-T",
        "variant": "16:30738008 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 30738008,
          "referenceAllele": "C",
          "start": 30738007
        }
      ],
      "hgvs": [
        "NC_000016.10:g.30738008C>T",
        "CM000678.2:g.30738008C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 30749329,
          "referenceAllele": "C",
          "start": 30749328
        }
      ],
      "hgvs": [
        "NC_000016.9:g.30749329C>T",
        "CM000678.1:g.30749329C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 30656830,
          "referenceAllele": "C",
          "start": 30656829
        }
      ],
      "hgvs": [
        "NC_000016.8:g.30656830C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 43868,
          "referenceAllele": "C",
          "start": 43867
        }
      ],
      "hgvs": [
        "NG_032135.1:g.43868C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005138"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8504,
          "referenceAllele": "C",
          "start": 8503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000411466.7:c.7968C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405186.3:p.Pro2656="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1758,
          "endIntronDirection": "+",
          "endIntronOffset": 53,
          "referenceAllele": "C",
          "start": 1758,
          "startIntronDirection": "+",
          "startIntronOffset": 52
        }
      ],
      "hgvs": [
        "ENST00000704023.1:c.1758+53C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS912135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8470,
          "referenceAllele": "C",
          "start": 8469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000706321.1:c.7968C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516346.1:p.Pro2656="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912804"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8323,
          "referenceAllele": "C",
          "start": 8322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000262518.9:c.7968C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262518.4:p.Pro2656="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262518.9:c.7968C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006662.3:c.7968C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262518.4:p.Pro2656="
          },
          "RefSeq": {
            "hgvs": "NP_006653.2:p.Pro2656="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8353,
          "referenceAllele": "C",
          "start": 8352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000262518.8:c.7968C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262518.4:p.Pro2656="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251044"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7437,
          "referenceAllele": "C",
          "start": 7436
        }
      ],
      "hgvs": [
        "ENST00000380361.7:c.7437C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369719.3:p.Pro2479="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7401,
          "referenceAllele": "C",
          "start": 7400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000395059.6:c.7191C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378499.3:p.Pro2397="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276496"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829648257",
      "coordinates": [
        {
          "allele": "T",
          "end": 8353,
          "referenceAllele": "C",
          "start": 8352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "NM_006662.2:c.7968C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006653.2:p.Pro2656="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829648257",
      "coordinates": [
        {
          "allele": "T",
          "end": 8323,
          "referenceAllele": "C",
          "start": 8322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "NM_006662.3:c.7968C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006653.2:p.Pro2656="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667564",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262518.9:c.7968C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006662.3:c.7968C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262518.4:p.Pro2656="
          },
          "RefSeq": {
            "hgvs": "NP_006653.2:p.Pro2656="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}