{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA149879",
  "communityStandardTitle": [
    "NM_000431.4(MVK):c.709A>T (p.Thr237Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103504[alleleid]",
        "alleleId": 103504,
        "preferredName": "NM_000431.4(MVK):c.709A>T (p.Thr237Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/97612",
        "RCV": [
          "RCV000083864",
          "RCV000480950",
          "RCV001381669"
        ],
        "variationId": 97612
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-110028607-A-T",
        "id": "12-110028607-A-T",
        "variant": "12:110028607 A / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.110028607A>T?assembly=hg19",
        "id": "chr12:g.110028607A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.109590802A>T?assembly=hg38",
        "id": "chr12:g.109590802A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104895366",
        "rs": 104895366
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-110028607-A-T?dataset=gnomad_r2_1",
        "id": "12-110028607-A-T",
        "variant": "12:110028607 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-109590802-A-T?dataset=gnomad_r3",
        "id": "12-109590802-A-T",
        "variant": "12:109590802 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-109590802-A-T?dataset=gnomad_r4",
        "id": "12-109590802-A-T",
        "variant": "12:109590802 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 109590802,
          "referenceAllele": "A",
          "start": 109590801
        }
      ],
      "hgvs": [
        "NC_000012.12:g.109590802A>T",
        "CM000674.2:g.109590802A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 110028607,
          "referenceAllele": "A",
          "start": 110028606
        }
      ],
      "hgvs": [
        "NC_000012.11:g.110028607A>T",
        "CM000674.1:g.110028607A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 108512990,
          "referenceAllele": "A",
          "start": 108512989
        }
      ],
      "hgvs": [
        "NC_000012.10:g.108512990A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22108,
          "referenceAllele": "A",
          "start": 22107
        }
      ],
      "hgvs": [
        "NG_007702.1:g.22108A>T",
        "LRG_156:g.22108A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000671"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 69,
          "endIntronDirection": "-",
          "endIntronOffset": 43,
          "referenceAllele": "A",
          "start": 69,
          "startIntronDirection": "-",
          "startIntronOffset": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000539696.6:c.-91-44A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439134.1:n.-91-44A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1015,
          "referenceAllele": "A",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000546277.6:c.709A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438153.2:p.Thr237Ser",
        "hgvsWellDefined": "ENSP00000438153.2:p.Thr237Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 348,
          "referenceAllele": "A",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000636529.2:n.348A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1732,
          "referenceAllele": "A",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000697195.1:c.*473A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513181.1:n.*473A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908600"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 807,
          "referenceAllele": "A",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000697196.1:c.797A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513182.1:p.His266Leu",
        "hgvsWellDefined": "ENSP00000513182.1:p.His266Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908601"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2359,
          "referenceAllele": "A",
          "start": 2358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000697197.1:n.2359A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908602"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 803,
          "referenceAllele": "A",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000228510.8:c.709A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228510.3:p.Thr237Ser",
        "hgvsWellDefined": "ENSP00000228510.3:p.Thr237Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740750",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228510.8:c.709A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000431.4:c.709A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228510.3:p.Thr237Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000422.1:p.Thr237Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 334,
          "referenceAllele": "A",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000636529.1:c.334A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763186"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 557,
          "referenceAllele": "A",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000636996.1:c.557A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 785,
          "referenceAllele": "A",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000228510.7:c.709A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228510.3:p.Thr237Ser",
        "hgvsWellDefined": "ENSP00000228510.3:p.Thr237Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248629"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 604,
          "referenceAllele": "A",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000392727.7:c.553A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376487.3:p.Thr185Ser",
        "hgvsWellDefined": "ENSP00000376487.3:p.Thr185Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 503,
          "referenceAllele": "A",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000447878.6:c.*156A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415555.2:n.*156A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 869,
          "endIntronDirection": "-",
          "endIntronOffset": 438,
          "referenceAllele": "A",
          "start": 869,
          "startIntronDirection": "-",
          "startIntronOffset": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000537237.5:c.*442-439A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445382.1:n.*442-439A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 725,
          "referenceAllele": "A",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000539575.4:c.709A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443551.2:p.Thr237Ser",
        "hgvsWellDefined": "ENSP00000443551.2:p.Thr237Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361933"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 69,
          "endIntronDirection": "-",
          "endIntronOffset": 43,
          "referenceAllele": "A",
          "start": 69,
          "startIntronDirection": "-",
          "startIntronOffset": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000539696.5:c.-91-44A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439134.1:n.-91-44A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2942,
          "referenceAllele": "A",
          "start": 2941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000540353.1:n.2942A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 569,
          "referenceAllele": "A",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000625889.2:c.553A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486846.1:p.Thr185Ser",
        "hgvsWellDefined": "ENSP00000486846.1:p.Thr185Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 424,
          "referenceAllele": "A",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000629016.2:c.*156A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486804.1:n.*156A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA149881",
      "coordinates": [
        {
          "allele": "T",
          "end": 902,
          "referenceAllele": "A",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_000431.3:c.709A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000422.1:p.Thr237Ser",
        "hgvsWellDefined": "NP_000422.1:p.Thr237Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006493"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915975968",
      "coordinates": [
        {
          "allele": "T",
          "end": 893,
          "referenceAllele": "A",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001114185.2:c.709A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107657.1:p.Thr237Ser",
        "hgvsWellDefined": "NP_001107657.1:p.Thr237Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011315"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826866358",
      "coordinates": [
        {
          "allele": "T",
          "end": 746,
          "referenceAllele": "A",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001301182.1:c.553A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288111.1:p.Thr185Ser",
        "hgvsWellDefined": "NP_001288111.1:p.Thr185Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025140"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 942,
          "referenceAllele": "A",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_011538372.1:c.709A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536674.1:p.Thr237Ser",
        "hgvsWellDefined": "XP_011536674.1:p.Thr237Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 641,
          "referenceAllele": "A",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_017019313.2:c.553A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874802.1:p.Thr185Ser",
        "hgvsWellDefined": "XP_016874802.1:p.Thr185Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1368,
          "referenceAllele": "A",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_017019314.1:c.709A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874803.1:p.Thr237Ser",
        "hgvsWellDefined": "XP_016874803.1:p.Thr237Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 834,
          "referenceAllele": "A",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_024448982.1:c.709A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304750.1:p.Thr237Ser",
        "hgvsWellDefined": "XP_024304750.1:p.Thr237Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582547"
    },
    {
      "@id": "http://reg.genome.network/allele/PA149881",
      "coordinates": [
        {
          "allele": "T",
          "end": 803,
          "referenceAllele": "A",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_000431.4:c.709A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000422.1:p.Thr237Ser",
        "hgvsWellDefined": "NP_000422.1:p.Thr237Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662441",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228510.8:c.709A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000431.4:c.709A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228510.3:p.Thr237Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000422.1:p.Thr237Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915975968",
      "coordinates": [
        {
          "allele": "T",
          "end": 794,
          "referenceAllele": "A",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001114185.3:c.709A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107657.1:p.Thr237Ser",
        "hgvsWellDefined": "NP_001107657.1:p.Thr237Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826866358",
      "coordinates": [
        {
          "allele": "T",
          "end": 647,
          "referenceAllele": "A",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001301182.2:c.553A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288111.1:p.Thr185Ser",
        "hgvsWellDefined": "NP_001288111.1:p.Thr185Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683373"
    }
  ],
  "type": "nucleotide"
}