{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA279453",
  "communityStandardTitle": [
    "NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214287[alleleid]",
        "alleleId": 214287,
        "preferredName": "NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217729",
        "RCV": [
          "RCV000201654",
          "RCV001307480",
          "RCV001161723",
          "RCV001163244",
          "RCV001804938"
        ],
        "variationId": 217729
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.94809684C>T?assembly=hg19",
        "id": "chr8:g.94809684C>T"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.94809684_94809685delinsTT?assembly=hg19",
        "id": "chr8:g.94809684_94809685delinsTT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.93797456C>T?assembly=hg38",
        "id": "chr8:g.93797456C>T"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.93797456_93797457delinsTT?assembly=hg38",
        "id": "chr8:g.93797456_93797457delinsTT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863225238",
        "rs": 863225238
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-94809684-C-T?dataset=gnomad_r2_1",
        "id": "8-94809684-C-T",
        "variant": "8:94809684 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-93797456-C-T?dataset=gnomad_r4",
        "id": "8-93797456-C-T",
        "variant": "8:93797456 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 93797456,
          "referenceAllele": "C",
          "start": 93797455
        }
      ],
      "hgvs": [
        "NC_000008.11:g.93797456C>T",
        "CM000670.2:g.93797456C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 94809684,
          "referenceAllele": "C",
          "start": 94809683
        }
      ],
      "hgvs": [
        "NC_000008.10:g.94809684C>T",
        "CM000670.1:g.94809684C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 94878860,
          "referenceAllele": "C",
          "start": 94878859
        }
      ],
      "hgvs": [
        "NC_000008.9:g.94878860C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 47613,
          "referenceAllele": "C",
          "start": 47612
        }
      ],
      "hgvs": [
        "NG_009190.1:g.47613C>T",
        "LRG_688:g.47613C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001468"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2086,
          "referenceAllele": "C",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000323130.8:c.2086C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314488.4:p.Leu696Phe",
        "hgvsWellDefined": "ENSP00000314488.4:p.Leu696Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2057,
          "referenceAllele": "C",
          "start": 2056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000409623.8:c.2041C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386966.4:p.Leu681Phe",
        "hgvsWellDefined": "ENSP00000386966.4:p.Leu681Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824612"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2086,
          "referenceAllele": "C",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000452276.6:c.2086C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388671.2:p.Leu696Phe",
        "hgvsWellDefined": "ENSP00000388671.2:p.Leu696Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1225,
          "referenceAllele": "C",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000453906.6:c.1204C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403035.2:p.Leu402Phe",
        "hgvsWellDefined": "ENSP00000403035.2:p.Leu402Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825047"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 377,
          "referenceAllele": "C",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000518896.2:c.377C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507992.1:n.377C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825640"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2214,
          "referenceAllele": "C",
          "start": 2213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000520680.2:c.2209C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428785.2:p.Leu737Phe",
        "hgvsWellDefined": "ENSP00000428785.2:p.Leu737Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1987,
          "referenceAllele": "C",
          "start": 1986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000521517.6:c.1987C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430740.2:p.Leu663Phe",
        "hgvsWellDefined": "ENSP00000430740.2:p.Leu663Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1907,
          "referenceAllele": "C",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000681998.1:c.1907C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506773.1:n.1907C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826997"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1348,
          "referenceAllele": "C",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682036.1:c.1327C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508390.1:p.Leu443Phe",
        "hgvsWellDefined": "ENSP00000508390.1:p.Leu443Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827034"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1859,
          "referenceAllele": "C",
          "start": 1858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682577.1:c.1859C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506963.1:n.1859C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1948,
          "referenceAllele": "C",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682624.1:c.*1660C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508343.1:n.*1660C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2086,
          "referenceAllele": "C",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682700.1:c.2086C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507627.1:p.Leu696Phe",
        "hgvsWellDefined": "ENSP00000507627.1:p.Leu696Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1624,
          "referenceAllele": "C",
          "start": 1623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682744.1:n.1624C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1909,
          "referenceAllele": "C",
          "start": 1908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682804.1:n.1909C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1575,
          "referenceAllele": "C",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682837.1:c.1575C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507920.1:n.1575C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4136,
          "referenceAllele": "C",
          "start": 4135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682935.1:n.4136C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1768,
          "referenceAllele": "C",
          "start": 1767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682984.1:c.1747C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507209.1:p.Leu583Phe",
        "hgvsWellDefined": "ENSP00000507209.1:p.Leu583Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827971"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1841,
          "referenceAllele": "C",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683078.1:c.1841C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506796.1:n.1841C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1818,
          "referenceAllele": "C",
          "start": 1817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683223.1:c.1818C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507685.1:n.1818C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3310,
          "referenceAllele": "C",
          "start": 3309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683238.1:n.3310C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828220"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3683,
          "referenceAllele": "C",
          "start": 3682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683249.1:n.3683C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1907,
          "referenceAllele": "C",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683336.1:c.1907C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507695.1:n.1907C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1768,
          "referenceAllele": "C",
          "start": 1767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683362.1:c.1747C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506985.1:p.Leu583Phe",
        "hgvsWellDefined": "ENSP00000506985.1:p.Leu583Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2009,
          "referenceAllele": "C",
          "start": 2008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683850.1:n.2009C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828817"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2016,
          "referenceAllele": "C",
          "start": 2015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683919.1:c.2016C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507617.1:n.2016C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1997,
          "referenceAllele": "C",
          "start": 1996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683953.1:c.1997C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508375.1:n.1997C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828916"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2063,
          "referenceAllele": "C",
          "start": 2062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684023.1:c.2063C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507461.1:n.2063C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2047,
          "referenceAllele": "C",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684064.1:c.1777C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508192.1:p.Leu593Phe",
        "hgvsWellDefined": "ENSP00000508192.1:p.Leu593Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3636,
          "referenceAllele": "C",
          "start": 3635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684089.1:n.3636C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1880,
          "referenceAllele": "C",
          "start": 1879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684149.1:c.*1265C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507943.1:n.*1265C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 463,
          "referenceAllele": "C",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684343.1:c.283C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507591.1:p.Leu95Phe",
        "hgvsWellDefined": "ENSP00000507591.1:p.Leu95Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2045,
          "referenceAllele": "C",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684416.1:n.2045C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2016,
          "referenceAllele": "C",
          "start": 2015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684540.1:c.2016C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507987.1:n.2016C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2107,
          "referenceAllele": "C",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000453321.8:c.2086C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389998.3:p.Leu696Phe",
        "hgvsWellDefined": "ENSP00000389998.3:p.Leu696Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756420",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453321.8:c.2086C>T"
          },
          "RefSeq": {
            "hgvs": "NM_153704.6:c.2086C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389998.3:p.Leu696Phe"
          },
          "RefSeq": {
            "hgvs": "NP_714915.3:p.Leu696Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2074,
          "referenceAllele": "C",
          "start": 2073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000323130.7:c.2056C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314488.3:p.Leu686Phe",
        "hgvsWellDefined": "ENSP00000314488.3:p.Leu686Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2045,
          "referenceAllele": "C",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000409623.7:c.1843C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386966.3:p.Leu615Phe",
        "hgvsWellDefined": "ENSP00000386966.3:p.Leu615Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281708"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2144,
          "referenceAllele": "C",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000453321.7:c.2086C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389998.3:p.Leu696Phe",
        "hgvsWellDefined": "ENSP00000389998.3:p.Leu696Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1224,
          "referenceAllele": "C",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000474944.5:n.1224C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 818,
          "referenceAllele": "C",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000519845.5:n.818C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347010"
    },
    {
      "@id": "http://reg.genome.network/allele/PA279456",
      "coordinates": [
        {
          "allele": "T",
          "end": 2088,
          "referenceAllele": "C",
          "start": 2087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NM_001142301.1:c.1843C>T",
        "LRG_688t2:c.1843C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135773.1:p.Leu615Phe",
        "hgvsWellDefined": "NP_001135773.1:p.Leu615Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012819"
    },
    {
      "@id": "http://reg.genome.network/allele/PA279457",
      "coordinates": [
        {
          "allele": "T",
          "end": 2157,
          "referenceAllele": "C",
          "start": 2156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NM_153704.5:c.2086C>T",
        "LRG_688t1:c.2086C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_714915.3:p.Leu696Phe",
        "hgvsWellDefined": "NP_714915.3:p.Leu696Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2157,
          "referenceAllele": "C",
          "start": 2156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NR_024522.1:n.2157C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047028"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1992,
          "referenceAllele": "C",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_006716686.2:c.1783C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716749.1:p.Leu595Phe",
        "hgvsWellDefined": "XP_006716749.1:p.Leu595Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1501,
          "referenceAllele": "C",
          "start": 1500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_006716687.2:c.1486C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716750.1:p.Leu496Phe",
        "hgvsWellDefined": "XP_006716750.1:p.Leu496Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1247,
          "referenceAllele": "C",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_011517363.1:c.1204C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515665.1:p.Leu402Phe",
        "hgvsWellDefined": "XP_011515665.1:p.Leu402Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2144,
          "referenceAllele": "C",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_428387.1:n.2144C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2144,
          "referenceAllele": "C",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928360.1:n.2144C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2144,
          "referenceAllele": "C",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928361.1:n.2144C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2144,
          "referenceAllele": "C",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928362.1:n.2144C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1995,
          "referenceAllele": "C",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_006716686.4:c.1783C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716749.1:p.Leu595Phe",
        "hgvsWellDefined": "XP_006716749.1:p.Leu595Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1219,
          "referenceAllele": "C",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_011517363.3:c.1204C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515665.1:p.Leu402Phe",
        "hgvsWellDefined": "XP_011515665.1:p.Leu402Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1843,
          "referenceAllele": "C",
          "start": 1842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_024447326.1:c.1432C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303094.1:p.Leu478Phe",
        "hgvsWellDefined": "XP_024303094.1:p.Leu478Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2127,
          "referenceAllele": "C",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_001745619.2:n.2127C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594108"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2127,
          "referenceAllele": "C",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_428387.2:n.2127C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606547"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2127,
          "referenceAllele": "C",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928360.3:n.2127C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2127,
          "referenceAllele": "C",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928362.3:n.2127C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA279457",
      "coordinates": [
        {
          "allele": "T",
          "end": 2107,
          "referenceAllele": "C",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NM_153704.6:c.2086C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_714915.3:p.Leu696Phe",
        "hgvsWellDefined": "NP_714915.3:p.Leu696Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453321.8:c.2086C>T"
          },
          "RefSeq": {
            "hgvs": "NM_153704.6:c.2086C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389998.3:p.Leu696Phe"
          },
          "RefSeq": {
            "hgvs": "NP_714915.3:p.Leu696Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2107,
          "referenceAllele": "C",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NR_024522.2:n.2107C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701872"
    }
  ],
  "type": "nucleotide"
}