{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA223140",
  "communityStandardTitle": [
    "NM_014425.5(INVS):c.2775C>T (p.Arg925=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=101496[alleleid]",
        "alleleId": 101496,
        "preferredName": "NM_014425.5(INVS):c.2775C>T (p.Arg925=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/95598",
        "RCV": [
          "RCV000081630",
          "RCV001523705"
        ],
        "variationId": 95598
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-103055314-C-T",
        "id": "9-103055314-C-T",
        "variant": "9:103055314 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.103055314C>T?assembly=hg19",
        "id": "chr9:g.103055314C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.100293032C>T?assembly=hg38",
        "id": "chr9:g.100293032C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/146360442",
        "rs": 146360442
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-103055314-C-T?dataset=gnomad_r2_1",
        "id": "9-103055314-C-T",
        "variant": "9:103055314 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-100293032-C-T?dataset=gnomad_r3",
        "id": "9-100293032-C-T",
        "variant": "9:100293032 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-100293032-C-T?dataset=gnomad_r4",
        "id": "9-100293032-C-T",
        "variant": "9:100293032 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 100293032,
          "referenceAllele": "C",
          "start": 100293031
        }
      ],
      "hgvs": [
        "NC_000009.12:g.100293032C>T",
        "CM000671.2:g.100293032C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 103055314,
          "referenceAllele": "C",
          "start": 103055313
        }
      ],
      "hgvs": [
        "NC_000009.11:g.103055314C>T",
        "CM000671.1:g.103055314C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 102095135,
          "referenceAllele": "C",
          "start": 102095134
        }
      ],
      "hgvs": [
        "NC_000009.10:g.102095135C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 198804,
          "referenceAllele": "C",
          "start": 198803
        }
      ],
      "hgvs": [
        "NG_008316.1:g.198804C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001023"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2973,
          "referenceAllele": "C",
          "start": 2972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "ENST00000262457.7:c.2775C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262457.2:p.Arg925="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742350",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262457.7:c.2775C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014425.5:c.2775C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262457.2:p.Arg925="
          },
          "RefSeq": {
            "hgvs": "NP_055240.2:p.Arg925="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2431,
          "referenceAllele": "C",
          "start": 2430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "ENST00000262456.6:c.2265C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262456.2:p.Arg755="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251026"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2960,
          "referenceAllele": "C",
          "start": 2959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "ENST00000262457.6:c.2775C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262457.2:p.Arg925="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251027"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829742087",
      "coordinates": [
        {
          "allele": "T",
          "end": 2996,
          "referenceAllele": "C",
          "start": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_014425.3:c.2775C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055240.2:p.Arg925="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2486,
          "referenceAllele": "C",
          "start": 2485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_183245.2:c.2265C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_899068.1:p.Arg755="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044253"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3084,
          "referenceAllele": "C",
          "start": 3083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NR_051962.1:n.3084C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052333"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3031,
          "referenceAllele": "C",
          "start": 3030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_005251923.3:c.2775C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251980.1:p.Arg925="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3066,
          "referenceAllele": "C",
          "start": 3065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_005251924.3:c.2487C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251981.1:p.Arg829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3342,
          "referenceAllele": "C",
          "start": 3341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518531.1:c.2775C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516833.1:p.Arg925="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3105,
          "referenceAllele": "C",
          "start": 3104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518532.1:c.2775C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516834.1:p.Arg925="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3031,
          "referenceAllele": "C",
          "start": 3030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518533.1:c.2775C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516835.1:p.Arg925="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085707"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3197,
          "referenceAllele": "C",
          "start": 3196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518534.1:c.2487C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516836.1:p.Arg829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085708"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3081,
          "referenceAllele": "C",
          "start": 3080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518535.1:c.2487C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516837.1:p.Arg829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3152,
          "referenceAllele": "C",
          "start": 3151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518536.1:c.2487C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516838.1:p.Arg829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2762,
          "referenceAllele": "C",
          "start": 2761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518537.1:c.2487C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516839.1:p.Arg829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2511,
          "referenceAllele": "C",
          "start": 2510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518538.1:c.2487C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516840.1:p.Arg829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3028,
          "referenceAllele": "C",
          "start": 3027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518539.1:c.2454C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516841.1:p.Arg818="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2632,
          "referenceAllele": "C",
          "start": 2631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518540.1:c.2454C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516842.1:p.Arg818="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085714"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2536,
          "referenceAllele": "C",
          "start": 2535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518541.1:c.2454C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516843.1:p.Arg818="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085715"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2752,
          "referenceAllele": "C",
          "start": 2751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518542.1:c.1977C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516844.1:p.Arg659="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2935,
          "referenceAllele": "C",
          "start": 2934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518543.1:c.1797C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516845.1:p.Arg599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2077,
          "referenceAllele": "C",
          "start": 2076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XM_011518544.1:c.1797C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516846.1:p.Arg599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085718"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2958,
          "referenceAllele": "C",
          "start": 2957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XR_242585.1:n.2958C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2982,
          "referenceAllele": "C",
          "start": 2981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XR_242586.1:n.2982C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2472,
          "referenceAllele": "C",
          "start": 2471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "XR_428522.1:n.2472C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118090"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826990152",
      "coordinates": [
        {
          "allele": "T",
          "end": 3119,
          "referenceAllele": "C",
          "start": 3118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_001318381.1:c.2487C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305310.1:p.Arg829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512867"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826990598",
      "coordinates": [
        {
          "allele": "T",
          "end": 3042,
          "referenceAllele": "C",
          "start": 3041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_001318382.1:c.1797C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305311.1:p.Arg599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829742087",
      "coordinates": [
        {
          "allele": "T",
          "end": 3031,
          "referenceAllele": "C",
          "start": 3030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_014425.4:c.2775C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055240.2:p.Arg925="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2982,
          "referenceAllele": "C",
          "start": 2981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NR_134606.1:n.2982C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527710"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829742087",
      "coordinates": [
        {
          "allele": "T",
          "end": 2973,
          "referenceAllele": "C",
          "start": 2972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_014425.5:c.2775C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055240.2:p.Arg925="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668337",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262457.7:c.2775C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014425.5:c.2775C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262457.2:p.Arg925="
          },
          "RefSeq": {
            "hgvs": "NP_055240.2:p.Arg925="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826990152",
      "coordinates": [
        {
          "allele": "T",
          "end": 3061,
          "referenceAllele": "C",
          "start": 3060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_001318381.2:c.2487C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305310.1:p.Arg829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717547"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826990598",
      "coordinates": [
        {
          "allele": "T",
          "end": 2984,
          "referenceAllele": "C",
          "start": 2983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NM_001318382.2:c.1797C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305311.1:p.Arg599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717548"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2924,
          "referenceAllele": "C",
          "start": 2923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017870",
      "geneNCBI_id": 27130,
      "geneSymbol": "INVS",
      "hgvs": [
        "NR_134606.2:n.2924C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730878"
    }
  ],
  "type": "nucleotide"
}