{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA126862",
  "communityStandardTitle": [
    "NM_001044.5(SLC6A3):c.1184C>T (p.Pro395Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5491872",
        "active": true,
        "id": "COSM5491872"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31803[alleleid]",
        "alleleId": 31803,
        "preferredName": "NM_001044.5(SLC6A3):c.1184C>T (p.Pro395Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16764",
        "RCV": [
          "RCV000018250"
        ],
        "variationId": 16764
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.1411443G>A?assembly=hg19",
        "id": "chr5:g.1411443G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.1411328G>A?assembly=hg38",
        "id": "chr5:g.1411328G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267607069",
        "rs": 267607069
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-1411443-G-A?dataset=gnomad_r2_1",
        "id": "5-1411443-G-A",
        "variant": "5:1411443 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-1411328-G-A?dataset=gnomad_r3",
        "id": "5-1411328-G-A",
        "variant": "5:1411328 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-1411328-G-A?dataset=gnomad_r4",
        "id": "5-1411328-G-A",
        "variant": "5:1411328 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 1411328,
          "referenceAllele": "G",
          "start": 1411327
        }
      ],
      "hgvs": [
        "NC_000005.10:g.1411328G>A",
        "CM000667.2:g.1411328G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 1411443,
          "referenceAllele": "G",
          "start": 1411442
        }
      ],
      "hgvs": [
        "NC_000005.9:g.1411443G>A",
        "CM000667.1:g.1411443G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 1464443,
          "referenceAllele": "G",
          "start": 1464442
        }
      ],
      "hgvs": [
        "NC_000005.8:g.1464443G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 39101,
          "referenceAllele": "C",
          "start": 39100
        }
      ],
      "hgvs": [
        "NG_015885.1:g.39101C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002903"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011049",
      "geneNCBI_id": 6531,
      "geneSymbol": "SLC6A3",
      "hgvs": [
        "ENST00000270349.12:c.1184C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270349.9:p.Pro395Leu",
        "hgvsWellDefined": "ENSP00000270349.9:p.Pro395Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743156",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270349.12:c.1184C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001044.5:c.1184C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270349.9:p.Pro395Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001035.1:p.Pro395Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1312,
          "referenceAllele": "C",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011049",
      "geneNCBI_id": 6531,
      "geneSymbol": "SLC6A3",
      "hgvs": [
        "ENST00000270349.11:c.1184C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270349.9:p.Pro395Leu",
        "hgvsWellDefined": "ENSP00000270349.9:p.Pro395Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252241"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094229",
      "coordinates": [
        {
          "allele": "T",
          "end": 1310,
          "referenceAllele": "C",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011049",
      "geneNCBI_id": 6531,
      "geneSymbol": "SLC6A3",
      "hgvs": [
        "NM_001044.4:c.1184C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035.1:p.Pro395Leu",
        "hgvsWellDefined": "NP_001035.1:p.Pro395Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009829"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094229",
      "coordinates": [
        {
          "allele": "T",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011049",
      "geneNCBI_id": 6531,
      "geneSymbol": "SLC6A3",
      "hgvs": [
        "NM_001044.5:c.1184C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035.1:p.Pro395Leu",
        "hgvsWellDefined": "NP_001035.1:p.Pro395Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663201",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270349.12:c.1184C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001044.5:c.1184C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270349.9:p.Pro395Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001035.1:p.Pro395Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}