{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA149849",
  "communityStandardTitle": [
    "NM_000431.4(MVK):c.591C>T (p.His197=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103491[alleleid]",
        "alleleId": 103491,
        "preferredName": "NM_000431.4(MVK):c.591C>T (p.His197=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/97599",
        "RCV": [
          "RCV000083851",
          "RCV000645100",
          "RCV000396517",
          "RCV000828083"
        ],
        "variationId": 97599
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-110023890-C-T",
        "id": "12-110023890-C-T",
        "variant": "12:110023890 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.110023890C>T?assembly=hg19",
        "id": "chr12:g.110023890C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.109586085C>T?assembly=hg38",
        "id": "chr12:g.109586085C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104895329",
        "rs": 104895329
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-110023890-C-T?dataset=gnomad_r2_1",
        "id": "12-110023890-C-T",
        "variant": "12:110023890 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-109586085-C-T?dataset=gnomad_r3",
        "id": "12-109586085-C-T",
        "variant": "12:109586085 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-109586085-C-T?dataset=gnomad_r4",
        "id": "12-109586085-C-T",
        "variant": "12:109586085 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 109586085,
          "referenceAllele": "C",
          "start": 109586084
        }
      ],
      "hgvs": [
        "NC_000012.12:g.109586085C>T",
        "CM000674.2:g.109586085C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 110023890,
          "referenceAllele": "C",
          "start": 110023889
        }
      ],
      "hgvs": [
        "NC_000012.11:g.110023890C>T",
        "CM000674.1:g.110023890C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 108508273,
          "referenceAllele": "C",
          "start": 108508272
        }
      ],
      "hgvs": [
        "NC_000012.10:g.108508273C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17391,
          "referenceAllele": "C",
          "start": 17390
        }
      ],
      "hgvs": [
        "NG_007702.1:g.17391C>T",
        "LRG_156:g.17391C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000671"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 69,
          "endIntronDirection": "-",
          "endIntronOffset": 4760,
          "referenceAllele": "C",
          "start": 69,
          "startIntronDirection": "-",
          "startIntronOffset": 4761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000539696.6:c.-91-4761C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439134.1:n.-91-4761C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 897,
          "referenceAllele": "C",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000546277.6:c.591C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438153.2:p.His197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 142,
          "referenceAllele": "C",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000636529.2:n.142C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1614,
          "referenceAllele": "C",
          "start": 1613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000697195.1:c.*355C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513181.1:n.*355C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908600"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000697196.1:c.591C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513182.1:p.His197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908601"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 685,
          "referenceAllele": "C",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000228510.8:c.591C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228510.3:p.His197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740750",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228510.8:c.591C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000431.4:c.591C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228510.3:p.His197="
          },
          "RefSeq": {
            "hgvs": "NP_000422.1:p.His197="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 128,
          "referenceAllele": "C",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000636529.1:c.128C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763186"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 439,
          "referenceAllele": "C",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000636996.1:c.439C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 667,
          "referenceAllele": "C",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000228510.7:c.591C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228510.3:p.His197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248629"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 486,
          "referenceAllele": "C",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000392727.7:c.435C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376487.3:p.His145="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 385,
          "referenceAllele": "C",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000447878.6:c.*38C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415555.2:n.*38C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 535,
          "referenceAllele": "C",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000535044.1:n.535C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359511"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "referenceAllele": "C",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000537237.5:c.*355C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445382.1:n.*355C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 607,
          "referenceAllele": "C",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000539575.4:c.591C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443551.2:p.His197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361933"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 69,
          "endIntronDirection": "-",
          "endIntronOffset": 4760,
          "referenceAllele": "C",
          "start": 69,
          "startIntronDirection": "-",
          "startIntronOffset": 4761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000539696.5:c.-91-4761C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439134.1:n.-91-4761C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 136,
          "referenceAllele": "C",
          "start": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000545516.1:n.136C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 346,
          "referenceAllele": "C",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000545774.5:c.*38C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443978.1:n.*38C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365278"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 875,
          "referenceAllele": "C",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000546277.5:c.591C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438153.1:p.His197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 451,
          "referenceAllele": "C",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000625889.2:c.435C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486846.1:p.His145="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 306,
          "referenceAllele": "C",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000629016.2:c.*38C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486804.1:n.*38C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825169730",
      "coordinates": [
        {
          "allele": "T",
          "end": 784,
          "referenceAllele": "C",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_000431.3:c.591C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000422.1:p.His197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006493"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825570838",
      "coordinates": [
        {
          "allele": "T",
          "end": 775,
          "referenceAllele": "C",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001114185.2:c.591C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107657.1:p.His197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011315"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826866255",
      "coordinates": [
        {
          "allele": "T",
          "end": 628,
          "referenceAllele": "C",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001301182.1:c.435C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288111.1:p.His145="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025140"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 824,
          "referenceAllele": "C",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_011538372.1:c.591C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536674.1:p.His197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 523,
          "referenceAllele": "C",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_017019313.2:c.435C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874802.1:p.His145="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1250,
          "referenceAllele": "C",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_017019314.1:c.591C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874803.1:p.His197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 716,
          "referenceAllele": "C",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_024448982.1:c.591C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304750.1:p.His197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582547"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825169730",
      "coordinates": [
        {
          "allele": "T",
          "end": 685,
          "referenceAllele": "C",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_000431.4:c.591C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000422.1:p.His197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662441",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228510.8:c.591C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000431.4:c.591C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228510.3:p.His197="
          },
          "RefSeq": {
            "hgvs": "NP_000422.1:p.His197="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825570838",
      "coordinates": [
        {
          "allele": "T",
          "end": 676,
          "referenceAllele": "C",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001114185.3:c.591C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107657.1:p.His197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826866255",
      "coordinates": [
        {
          "allele": "T",
          "end": 529,
          "referenceAllele": "C",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001301182.2:c.435C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288111.1:p.His145="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683373"
    }
  ],
  "type": "nucleotide"
}