{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA274432",
  "communityStandardTitle": [
    "NM_005476.7(GNE):c.386G>A (p.Arg129Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3907324",
        "active": true,
        "id": "COSM3907324"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3907325",
        "active": true,
        "id": "COSM3907325"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3907326",
        "active": true,
        "id": "COSM3907326"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186790[alleleid]",
        "alleleId": 186790,
        "preferredName": "NM_005476.7(GNE):c.386G>A (p.Arg129Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189156",
        "RCV": [
          "RCV000169582",
          "RCV001390245"
        ],
        "variationId": 189156
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-36246258-C-T",
        "id": "9-36246258-C-T",
        "variant": "9:36246258 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.36246258C>T?assembly=hg19",
        "id": "chr9:g.36246258C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.36246261C>T?assembly=hg38",
        "id": "chr9:g.36246261C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/748704459",
        "rs": 748704459
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-36246258-C-T?dataset=gnomad_r2_1",
        "id": "9-36246258-C-T",
        "variant": "9:36246258 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-36246261-C-T?dataset=gnomad_r4",
        "id": "9-36246261-C-T",
        "variant": "9:36246261 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 36246261,
          "referenceAllele": "C",
          "start": 36246260
        }
      ],
      "hgvs": [
        "NC_000009.12:g.36246261C>T",
        "CM000671.2:g.36246261C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 36246258,
          "referenceAllele": "C",
          "start": 36246257
        }
      ],
      "hgvs": [
        "NC_000009.11:g.36246258C>T",
        "CM000671.1:g.36246258C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 36236258,
          "referenceAllele": "C",
          "start": 36236257
        }
      ],
      "hgvs": [
        "NC_000009.10:g.36236258C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 35784,
          "referenceAllele": "G",
          "start": 35783
        }
      ],
      "hgvs": [
        "NG_008246.1:g.35784G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000977"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000396594.8:c.479G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379839.3:p.Arg160Gln",
        "hgvsWellDefined": "ENSP00000379839.3:p.Arg160Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753539",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396594.8:c.479G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001128227.3:c.479G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379839.3:p.Arg160Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001121699.1:p.Arg160Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 371,
          "referenceAllele": "G",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000543356.7:c.209G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437765.3:p.Arg70Gln",
        "hgvsWellDefined": "ENSP00000437765.3:p.Arg70Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 556,
          "referenceAllele": "G",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000642385.2:c.386G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494141.2:p.Arg129Gln",
        "hgvsWellDefined": "ENSP00000494141.2:p.Arg129Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766712",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642385.2:c.386G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005476.7:c.386G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494141.2:p.Arg129Gln"
          },
          "RefSeq": {
            "hgvs": "NP_005467.1:p.Arg129Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 607,
          "referenceAllele": "G",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000377902.5:c.386G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367134.4:p.Arg129Gln",
        "hgvsWellDefined": "ENSP00000367134.4:p.Arg129Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271797"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 591,
          "referenceAllele": "G",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000396594.7:c.479G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379839.3:p.Arg160Gln",
        "hgvsWellDefined": "ENSP00000379839.3:p.Arg160Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 437,
          "referenceAllele": "G",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000447283.6:c.386G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414760.2:p.Arg129Gln",
        "hgvsWellDefined": "ENSP00000414760.2:p.Arg129Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 611,
          "endIntronDirection": "-",
          "endIntronOffset": 16936,
          "referenceAllele": "C",
          "start": 611,
          "startIntronDirection": "-",
          "startIntronOffset": 16937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002090",
      "geneNCBI_id": 1211,
      "geneSymbol": "CLTA",
      "hgvs": [
        "ENST00000464497.5:c.486-16937C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419158.1:n.486-16937C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308313"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 347,
          "referenceAllele": "G",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000539208.5:c.209G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445117.1:p.Arg70Gln",
        "hgvsWellDefined": "ENSP00000445117.1:p.Arg70Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361731"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 427,
          "referenceAllele": "G",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000539815.5:c.386G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439155.1:p.Arg129Gln",
        "hgvsWellDefined": "ENSP00000439155.1:p.Arg129Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 371,
          "referenceAllele": "G",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000543356.6:c.371G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437765.2:p.Arg124Gln",
        "hgvsWellDefined": "ENSP00000437765.2:p.Arg124Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA274433",
      "coordinates": [
        {
          "allele": "A",
          "end": 591,
          "referenceAllele": "G",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001128227.2:c.479G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121699.1:p.Arg160Gln",
        "hgvsWellDefined": "NP_001121699.1:p.Arg160Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011763"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826157444",
      "coordinates": [
        {
          "allele": "A",
          "end": 607,
          "referenceAllele": "G",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190383.1:c.386G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177312.1:p.Arg129Gln",
        "hgvsWellDefined": "NP_001177312.1:p.Arg129Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915996898",
      "coordinates": [
        {
          "allele": "A",
          "end": 401,
          "referenceAllele": "G",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190384.1:c.209G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177313.1:p.Arg70Gln",
        "hgvsWellDefined": "NP_001177313.1:p.Arg70Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 385,
          "referenceAllele": "G",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190388.1:c.371G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177317.1:p.Arg124Gln",
        "hgvsWellDefined": "NP_001177317.1:p.Arg124Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016170"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829588105",
      "coordinates": [
        {
          "allele": "A",
          "end": 607,
          "referenceAllele": "G",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_005476.5:c.386G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005467.1:p.Arg129Gln",
        "hgvsWellDefined": "NP_005467.1:p.Arg129Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030569"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 591,
          "referenceAllele": "G",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_005251334.3:c.479G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251391.1:p.Arg160Gln",
        "hgvsWellDefined": "XP_005251391.1:p.Arg160Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826157444",
      "coordinates": [
        {
          "allele": "A",
          "end": 556,
          "referenceAllele": "G",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190383.2:c.386G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177312.1:p.Arg129Gln",
        "hgvsWellDefined": "NP_001177312.1:p.Arg129Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511761"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915996898",
      "coordinates": [
        {
          "allele": "A",
          "end": 350,
          "referenceAllele": "G",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190384.2:c.209G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177313.1:p.Arg70Gln",
        "hgvsWellDefined": "NP_001177313.1:p.Arg70Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829588105",
      "coordinates": [
        {
          "allele": "A",
          "end": 556,
          "referenceAllele": "G",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_005476.6:c.386G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005467.1:p.Arg129Gln",
        "hgvsWellDefined": "NP_005467.1:p.Arg129Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 591,
          "referenceAllele": "G",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_005251334.4:c.479G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251391.1:p.Arg160Gln",
        "hgvsWellDefined": "XP_005251391.1:p.Arg160Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533584"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 452,
          "referenceAllele": "G",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_017014167.1:c.386G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869656.1:p.Arg129Gln",
        "hgvsWellDefined": "XP_016869656.1:p.Arg129Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567199"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 584,
          "referenceAllele": "G",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_017014168.1:c.386G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869657.1:p.Arg129Gln",
        "hgvsWellDefined": "XP_016869657.1:p.Arg129Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA274433",
      "coordinates": [
        {
          "allele": "A",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001128227.3:c.479G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121699.1:p.Arg160Gln",
        "hgvsWellDefined": "NP_001121699.1:p.Arg160Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676980",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396594.8:c.479G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001128227.3:c.479G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379839.3:p.Arg160Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001121699.1:p.Arg160Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826157444",
      "coordinates": [
        {
          "allele": "A",
          "end": 556,
          "referenceAllele": "G",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190383.3:c.386G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177312.1:p.Arg129Gln",
        "hgvsWellDefined": "NP_001177312.1:p.Arg129Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915996898",
      "coordinates": [
        {
          "allele": "A",
          "end": 350,
          "referenceAllele": "G",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190384.3:c.209G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177313.1:p.Arg70Gln",
        "hgvsWellDefined": "NP_001177313.1:p.Arg70Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826158415",
      "coordinates": [
        {
          "allele": "A",
          "end": 307,
          "referenceAllele": "G",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190388.2:c.209G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177317.2:p.Arg70Gln",
        "hgvsWellDefined": "NP_001177317.2:p.Arg70Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679108"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828549913",
      "coordinates": [
        {
          "allele": "A",
          "end": 556,
          "referenceAllele": "G",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001374797.1:c.386G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361726.1:p.Arg129Gln",
        "hgvsWellDefined": "NP_001361726.1:p.Arg129Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693367"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139743838",
      "coordinates": [
        {
          "allele": "A",
          "end": 350,
          "referenceAllele": "G",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001374798.1:c.209G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361727.1:p.Arg70Gln",
        "hgvsWellDefined": "NP_001361727.1:p.Arg70Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693368"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829588105",
      "coordinates": [
        {
          "allele": "A",
          "end": 556,
          "referenceAllele": "G",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_005476.7:c.386G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005467.1:p.Arg129Gln",
        "hgvsWellDefined": "NP_005467.1:p.Arg129Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696430",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642385.2:c.386G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005476.7:c.386G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494141.2:p.Arg129Gln"
          },
          "RefSeq": {
            "hgvs": "NP_005467.1:p.Arg129Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}