{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA172140",
  "communityStandardTitle": [
    "NM_006579.3(EBP):c.15G>T (p.Ala5=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM150788"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=170112[alleleid]",
        "alleleId": 170112,
        "preferredName": "NM_006579.3(EBP):c.15G>T (p.Ala5=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/158531",
        "RCV": [
          "RCV000145923",
          "RCV001513029",
          "RCV001657836",
          "RCV001657835"
        ],
        "variationId": 158531
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-48382174-G-T",
        "id": "X-48382174-G-T",
        "variant": "X:48382174 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48382174G>T?assembly=hg19",
        "id": "chrX:g.48382174G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48523786G>T?assembly=hg38",
        "id": "chrX:g.48523786G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3048",
        "rs": 3048
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-48382174-G-T?dataset=gnomad_r2_1",
        "id": "X-48382174-G-T",
        "variant": "X:48382174 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-48523786-G-T?dataset=gnomad_r3",
        "id": "X-48523786-G-T",
        "variant": "X:48523786 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-48523786-G-T?dataset=gnomad_r4",
        "id": "X-48523786-G-T",
        "variant": "X:48523786 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 48523786,
          "referenceAllele": "G",
          "start": 48523785
        }
      ],
      "hgvs": [
        "NC_000023.11:g.48523786G>T",
        "CM000685.2:g.48523786G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 48382174,
          "referenceAllele": "G",
          "start": 48382173
        }
      ],
      "hgvs": [
        "NC_000023.10:g.48382174G>T",
        "CM000685.1:g.48382174G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 48267118,
          "referenceAllele": "G",
          "start": 48267117
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48267118G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7011,
          "referenceAllele": "G",
          "start": 7010
        }
      ],
      "hgvs": [
        "NG_007452.1:g.7011G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000579"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 188,
          "referenceAllele": "G",
          "start": 187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003133",
      "geneNCBI_id": 10682,
      "geneSymbol": "EBP",
      "hgvs": [
        "ENST00000495186.6:c.15G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417052.1:p.Ala5="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757794",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000495186.6:c.15G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006579.3:c.15G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417052.1:p.Ala5="
          },
          "RefSeq": {
            "hgvs": "NP_006570.1:p.Ala5="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 190,
          "referenceAllele": "G",
          "start": 189
        }
      ],
      "hgvs": [
        "ENST00000651615.1:c.15G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498524.1:p.Ala5="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 109,
          "endIntronDirection": "-",
          "endIntronOffset": 136,
          "referenceAllele": "G",
          "start": 109,
          "startIntronDirection": "-",
          "startIntronOffset": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003133",
      "geneNCBI_id": 10682,
      "geneSymbol": "EBP",
      "hgvs": [
        "ENST00000276096.10:n.110-137G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS252657"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 187,
          "referenceAllele": "G",
          "start": 186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003133",
      "geneNCBI_id": 10682,
      "geneSymbol": "EBP",
      "hgvs": [
        "ENST00000414061.1:c.15G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405832.1:p.Ala5="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 248,
          "referenceAllele": "G",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003133",
      "geneNCBI_id": 10682,
      "geneSymbol": "EBP",
      "hgvs": [
        "ENST00000446158.5:c.15G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390031.1:p.Ala5="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 838,
          "referenceAllele": "G",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003133",
      "geneNCBI_id": 10682,
      "geneSymbol": "EBP",
      "hgvs": [
        "ENST00000495186.5:c.15G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417052.1:p.Ala5="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 136,
          "referenceAllele": "G",
          "start": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003133",
      "geneNCBI_id": 10682,
      "geneSymbol": "EBP",
      "hgvs": [
        "ENST00000498425.1:n.136G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334436"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829670756",
      "coordinates": [
        {
          "allele": "T",
          "end": 220,
          "referenceAllele": "G",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003133",
      "geneNCBI_id": 10682,
      "geneSymbol": "EBP",
      "hgvs": [
        "NM_006579.2:c.15G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006570.1:p.Ala5="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031581"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829670756",
      "coordinates": [
        {
          "allele": "T",
          "end": 188,
          "referenceAllele": "G",
          "start": 187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003133",
      "geneNCBI_id": 10682,
      "geneSymbol": "EBP",
      "hgvs": [
        "NM_006579.3:c.15G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006570.1:p.Ala5="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667528",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000495186.6:c.15G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006579.3:c.15G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417052.1:p.Ala5="
          },
          "RefSeq": {
            "hgvs": "NP_006570.1:p.Ala5="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}