{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA222837",
  "communityStandardTitle": [
    "NM_005120.3(MED12):c.2849+14C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=101145[alleleid]",
        "alleleId": 101145,
        "preferredName": "NM_005120.3(MED12):c.2849+14C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/95246",
        "RCV": [
          "RCV000081259",
          "RCV002483145",
          "RCV003595860"
        ],
        "variationId": 95246
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-70346996-C-T",
        "id": "X-70346996-C-T",
        "variant": "X:70346996 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.70346996C>T?assembly=hg19",
        "id": "chrX:g.70346996C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.71127146C>T?assembly=hg38",
        "id": "chrX:g.71127146C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398124196",
        "rs": 398124196
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-70346996-C-T?dataset=gnomad_r2_1",
        "id": "X-70346996-C-T",
        "variant": "X:70346996 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-71127146-C-T?dataset=gnomad_r4",
        "id": "X-71127146-C-T",
        "variant": "X:71127146 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 71127146,
          "referenceAllele": "C",
          "start": 71127145
        }
      ],
      "hgvs": [
        "NC_000023.11:g.71127146C>T",
        "CM000685.2:g.71127146C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 70346996,
          "referenceAllele": "C",
          "start": 70346995
        }
      ],
      "hgvs": [
        "NC_000023.10:g.70346996C>T",
        "CM000685.1:g.70346996C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 70263721,
          "referenceAllele": "C",
          "start": 70263720
        }
      ],
      "hgvs": [
        "NC_000023.9:g.70263721C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13591,
          "referenceAllele": "C",
          "start": 13590
        }
      ],
      "hgvs": [
        "NG_012808.1:g.13591C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002546"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2888,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2888,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000333646.11:c.2729+14C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333125.8:n.2729+14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823936"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2975,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2975,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000374102.6:c.2849+14C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363215.2:n.2849+14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824302"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1192,
          "referenceAllele": "C",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000462984.2:n.1192C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2926,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2926,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000686548.1:c.*2745+14C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509582.1:n.*2745+14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830625"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3048,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 3048,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000687382.1:c.2849+14C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510724.1:n.2849+14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831058"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 419,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 419,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000688079.1:n.419+14C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3008,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 3008,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000688663.1:c.2849+14C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509348.1:n.2849+14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1459,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 1459,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000689768.1:n.1459+14C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2879,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2879,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000690145.1:c.2849+14C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508818.1:n.2849+14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3061,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 3061,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000690242.1:c.2849+14C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510090.1:n.2849+14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832605"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3005,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 3005,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000690828.1:n.3005+14C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 808,
          "referenceAllele": "C",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000691113.1:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509755.1:n.808C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1080,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 1080,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000691426.1:n.1080+14C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2827,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2827,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000691468.1:c.2798+14C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509011.1:n.2798+14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3061,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 3061,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000692304.1:c.2849+14C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508427.1:n.2849+14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2820,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2820,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000693324.1:c.2768+14C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508643.1:n.2768+14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 794,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 794,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000693391.1:c.794+14C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509563.1:n.794+14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834221"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3008,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 3008,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000374080.8:c.2849+14C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363193.3:n.2849+14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374080.8:c.2849+14C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005120.3:c.2849+14C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363193.3:n.2849+14C>T"
          },
          "RefSeq": {
            "hgvs": "NP_005111.2:n.2849+14C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3048,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 3048,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000333646.10:c.2390+14C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333125.7:n.2390+14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2881,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2881,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000374080.7:c.2849+14C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363193.3:n.2849+14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2909,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2909,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000374102.5:c.2849+14C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363215.1:n.2849+14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270061"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 275,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 275,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000462984.1:n.275+14C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307112"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 388,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000471663.5:n.388+14C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3048,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 3048,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "NM_005120.2:c.2849+14C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005111.2:n.2849+14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3048,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 3048,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "XM_005262317.1:c.2849+14C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262374.1:n.2849+14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063410"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3048,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 3048,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "XM_005262319.1:c.2849+14C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262376.1:n.2849+14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3008,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 3008,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "NM_005120.3:c.2849+14C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005111.2:n.2849+14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666828",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374080.8:c.2849+14C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005120.3:c.2849+14C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363193.3:n.2849+14C>T"
          },
          "RefSeq": {
            "hgvs": "NP_005111.2:n.2849+14C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}