{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5210994",
  "communityStandardTitle": [
    "NM_001365068.1(ASTN2):c.2806+27535C>T",
    "NM_012210.4(TRIM32):c.494G>A (p.Arg165Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1438208[alleleid]",
        "alleleId": 1438208,
        "preferredName": "NM_012210.4(TRIM32):c.494G>A (p.Arg165Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1424332",
        "RCV": [
          "RCV001921571",
          "RCV002491932"
        ],
        "variationId": 1424332
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-119460515-G-A",
        "id": "9-119460515-G-A",
        "variant": "9:119460515 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.119460515G>A?assembly=hg19",
        "id": "chr9:g.119460515G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.116698236G>A?assembly=hg38",
        "id": "chr9:g.116698236G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/761591526",
        "rs": 761591526
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-119460515-G-A?dataset=gnomad_r2_1",
        "id": "9-119460515-G-A",
        "variant": "9:119460515 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-116698236-G-A?dataset=gnomad_r4",
        "id": "9-116698236-G-A",
        "variant": "9:116698236 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 116698236,
          "referenceAllele": "G",
          "start": 116698235
        }
      ],
      "hgvs": [
        "NC_000009.12:g.116698236G>A",
        "CM000671.2:g.116698236G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 119460515,
          "referenceAllele": "G",
          "start": 119460514
        }
      ],
      "hgvs": [
        "NC_000009.11:g.119460515G>A",
        "CM000671.1:g.119460515G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 118500336,
          "referenceAllele": "G",
          "start": 118500335
        }
      ],
      "hgvs": [
        "NC_000009.10:g.118500336G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15935,
          "referenceAllele": "G",
          "start": 15934
        }
      ],
      "hgvs": [
        "NG_011619.1:g.15935G>A",
        "LRG_211:g.15935G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001856"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 721803,
          "referenceAllele": "C",
          "start": 721802
        }
      ],
      "hgvs": [
        "NG_021409.1:g.721803C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 721822,
          "referenceAllele": "C",
          "start": 721821
        }
      ],
      "hgvs": [
        "NG_021409.2:g.721822C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616256"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2925,
          "endIntronDirection": "+",
          "endIntronOffset": 27535,
          "referenceAllele": "C",
          "start": 2925,
          "startIntronDirection": "+",
          "startIntronOffset": 27534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017021",
      "geneNCBI_id": 23245,
      "geneSymbol": "ASTN2",
      "hgvs": [
        "ENST00000313400.9:c.2806+27535C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314038.4:n.2806+27535C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745855",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313400.9:c.2806+27535C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001365068.1:c.2806+27535C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000314038.4:n.2806+27535C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001351997.1:n.2806+27535C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2754,
          "endIntronDirection": "+",
          "endIntronOffset": 27535,
          "referenceAllele": "C",
          "start": 2754,
          "startIntronDirection": "+",
          "startIntronOffset": 27534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017021",
      "geneNCBI_id": 23245,
      "geneSymbol": "ASTN2",
      "hgvs": [
        "ENST00000361477.8:c.2653+27535C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355116.5:n.2653+27535C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749479"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016380",
      "geneNCBI_id": 22954,
      "geneSymbol": "TRIM32",
      "hgvs": [
        "ENST00000450136.2:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408292.1:p.Arg165Gln",
        "hgvsWellDefined": "ENSP00000408292.1:p.Arg165Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000450136.2:c.494G>A"
          },
          "RefSeq": {
            "hgvs": "NM_012210.4:c.494G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000408292.1:p.Arg165Gln"
          },
          "RefSeq": {
            "hgvs": "NP_036342.2:p.Arg165Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2907,
          "endIntronDirection": "+",
          "endIntronOffset": 27535,
          "referenceAllele": "C",
          "start": 2907,
          "startIntronDirection": "+",
          "startIntronOffset": 27534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017021",
      "geneNCBI_id": 23245,
      "geneSymbol": "ASTN2",
      "hgvs": [
        "ENST00000313400.8:c.2806+27535C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314038.4:n.2806+27535C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2785,
          "endIntronDirection": "+",
          "endIntronOffset": 27535,
          "referenceAllele": "C",
          "start": 2785,
          "startIntronDirection": "+",
          "startIntronOffset": 27534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017021",
      "geneNCBI_id": 23245,
      "geneSymbol": "ASTN2",
      "hgvs": [
        "ENST00000361209.6:c.2653+27535C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354504.2:n.2653+27535C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2754,
          "endIntronDirection": "+",
          "endIntronOffset": 27535,
          "referenceAllele": "C",
          "start": 2754,
          "startIntronDirection": "+",
          "startIntronOffset": 27534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017021",
      "geneNCBI_id": 23245,
      "geneSymbol": "ASTN2",
      "hgvs": [
        "ENST00000361477.7:c.-39+27535C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355116.4:n.-39+27535C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265497"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 624,
          "referenceAllele": "G",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016380",
      "geneNCBI_id": 22954,
      "geneSymbol": "TRIM32",
      "hgvs": [
        "ENST00000373983.2:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363095.1:p.Arg165Gln",
        "hgvsWellDefined": "ENSP00000363095.1:p.Arg165Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1975,
          "endIntronDirection": "+",
          "endIntronOffset": 27535,
          "referenceAllele": "C",
          "start": 1975,
          "startIntronDirection": "+",
          "startIntronOffset": 27534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017021",
      "geneNCBI_id": 23245,
      "geneSymbol": "ASTN2",
      "hgvs": [
        "ENST00000373986.7:c.1975+27535C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363098.3:n.1975+27535C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 675,
          "referenceAllele": "G",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016380",
      "geneNCBI_id": 22954,
      "geneSymbol": "TRIM32",
      "hgvs": [
        "ENST00000411410.1:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412603.1:p.Arg165Gln",
        "hgvsWellDefined": "ENSP00000412603.1:p.Arg165Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282140"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 655,
          "referenceAllele": "G",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016380",
      "geneNCBI_id": 22954,
      "geneSymbol": "TRIM32",
      "hgvs": [
        "ENST00000450136.1:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408292.1:p.Arg165Gln",
        "hgvsWellDefined": "ENSP00000408292.1:p.Arg165Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300561"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825499651",
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016380",
      "geneNCBI_id": 22954,
      "geneSymbol": "TRIM32",
      "hgvs": [
        "NM_001099679.1:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001093149.1:p.Arg165Gln",
        "hgvsWellDefined": "NP_001093149.1:p.Arg165Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010784"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573254511",
      "coordinates": [
        {
          "allele": "A",
          "end": 655,
          "referenceAllele": "G",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016380",
      "geneNCBI_id": 22954,
      "geneSymbol": "TRIM32",
      "hgvs": [
        "NM_012210.3:c.494G>A",
        "LRG_211t1:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036342.2:p.Arg165Gln",
        "hgvsWellDefined": "NP_036342.2:p.Arg165Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032398"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2754,
          "endIntronDirection": "+",
          "endIntronOffset": 27535,
          "referenceAllele": "C",
          "start": 2754,
          "startIntronDirection": "+",
          "startIntronOffset": 27534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017021",
      "geneNCBI_id": 23245,
      "geneSymbol": "ASTN2",
      "hgvs": [
        "NM_014010.4:c.2653+27535C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054729.3:n.2653+27535C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032871"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 656,
          "referenceAllele": "G",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016380",
      "geneNCBI_id": 22954,
      "geneSymbol": "TRIM32",
      "hgvs": [
        "XM_005251813.2:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251870.1:p.Arg165Gln",
        "hgvsWellDefined": "XP_005251870.1:p.Arg165Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "referenceAllele": "G",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016380",
      "geneNCBI_id": 22954,
      "geneSymbol": "TRIM32",
      "hgvs": [
        "XM_011518396.1:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516698.1:p.Arg165Gln",
        "hgvsWellDefined": "XP_011516698.1:p.Arg165Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085570"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 708,
          "referenceAllele": "G",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016380",
      "geneNCBI_id": 22954,
      "geneSymbol": "TRIM32",
      "hgvs": [
        "XM_011518397.1:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516699.1:p.Arg165Gln",
        "hgvsWellDefined": "XP_011516699.1:p.Arg165Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085571"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 653,
          "referenceAllele": "G",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016380",
      "geneNCBI_id": 22954,
      "geneSymbol": "TRIM32",
      "hgvs": [
        "XM_011518398.1:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516700.1:p.Arg165Gln",
        "hgvsWellDefined": "XP_011516700.1:p.Arg165Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085572"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2925,
          "endIntronDirection": "+",
          "endIntronOffset": 27535,
          "referenceAllele": "C",
          "start": 2925,
          "startIntronDirection": "+",
          "startIntronOffset": 27534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017021",
      "geneNCBI_id": 23245,
      "geneSymbol": "ASTN2",
      "hgvs": [
        "NM_001365068.1:c.2806+27535C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351997.1:n.2806+27535C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524020",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313400.9:c.2806+27535C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001365068.1:c.2806+27535C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000314038.4:n.2806+27535C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001351997.1:n.2806+27535C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2913,
          "endIntronDirection": "+",
          "endIntronOffset": 27535,
          "referenceAllele": "C",
          "start": 2913,
          "startIntronDirection": "+",
          "startIntronOffset": 27534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017021",
      "geneNCBI_id": 23245,
      "geneSymbol": "ASTN2",
      "hgvs": [
        "NM_001365069.1:c.2794+27535C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351998.1:n.2794+27535C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 697,
          "referenceAllele": "G",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016380",
      "geneNCBI_id": 22954,
      "geneSymbol": "TRIM32",
      "hgvs": [
        "XM_005251813.4:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251870.1:p.Arg165Gln",
        "hgvsWellDefined": "XP_005251870.1:p.Arg165Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 689,
          "referenceAllele": "G",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016380",
      "geneNCBI_id": 22954,
      "geneSymbol": "TRIM32",
      "hgvs": [
        "XM_011518398.2:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516700.1:p.Arg165Gln",
        "hgvsWellDefined": "XP_011516700.1:p.Arg165Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544902"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 712,
          "referenceAllele": "G",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016380",
      "geneNCBI_id": 22954,
      "geneSymbol": "TRIM32",
      "hgvs": [
        "XM_017014486.1:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869975.1:p.Arg165Gln",
        "hgvsWellDefined": "XP_016869975.1:p.Arg165Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567444"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825499651",
      "coordinates": [
        {
          "allele": "A",
          "end": 649,
          "referenceAllele": "G",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016380",
      "geneNCBI_id": 22954,
      "geneSymbol": "TRIM32",
      "hgvs": [
        "NM_001099679.2:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001093149.1:p.Arg165Gln",
        "hgvsWellDefined": "NP_001093149.1:p.Arg165Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2772,
          "endIntronDirection": "+",
          "endIntronOffset": 27535,
          "referenceAllele": "C",
          "start": 2772,
          "startIntronDirection": "+",
          "startIntronOffset": 27534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017021",
      "geneNCBI_id": 23245,
      "geneSymbol": "ASTN2",
      "hgvs": [
        "NM_014010.5:c.2653+27535C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054729.3:n.2653+27535C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697170"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828805222",
      "coordinates": [
        {
          "allele": "A",
          "end": 713,
          "referenceAllele": "G",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016380",
      "geneNCBI_id": 22954,
      "geneSymbol": "TRIM32",
      "hgvs": [
        "NM_001379048.1:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365977.1:p.Arg165Gln",
        "hgvsWellDefined": "NP_001365977.1:p.Arg165Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721899"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828805769",
      "coordinates": [
        {
          "allele": "A",
          "end": 672,
          "referenceAllele": "G",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016380",
      "geneNCBI_id": 22954,
      "geneSymbol": "TRIM32",
      "hgvs": [
        "NM_001379049.1:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365978.1:p.Arg165Gln",
        "hgvsWellDefined": "NP_001365978.1:p.Arg165Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721900"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828806316",
      "coordinates": [
        {
          "allele": "A",
          "end": 669,
          "referenceAllele": "G",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016380",
      "geneNCBI_id": 22954,
      "geneSymbol": "TRIM32",
      "hgvs": [
        "NM_001379050.1:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365979.1:p.Arg165Gln",
        "hgvsWellDefined": "NP_001365979.1:p.Arg165Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721901"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573254511",
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016380",
      "geneNCBI_id": 22954,
      "geneSymbol": "TRIM32",
      "hgvs": [
        "NM_012210.4:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036342.2:p.Arg165Gln",
        "hgvsWellDefined": "NP_036342.2:p.Arg165Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000450136.2:c.494G>A"
          },
          "RefSeq": {
            "hgvs": "NM_012210.4:c.494G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000408292.1:p.Arg165Gln"
          },
          "RefSeq": {
            "hgvs": "NP_036342.2:p.Arg165Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}