{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA253679",
  "communityStandardTitle": [
    "NM_005476.7(GNE):c.2135T>C (p.Met712Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21064[alleleid]",
        "alleleId": 21064,
        "preferredName": "NM_005476.7(GNE):c.2135T>C (p.Met712Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6025",
        "RCV": [
          "RCV000006396",
          "RCV000443895",
          "RCV000763615",
          "RCV001705582"
        ],
        "variationId": 6025
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-36217396-A-G",
        "id": "9-36217396-A-G",
        "variant": "9:36217396 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.36217396A>G?assembly=hg19",
        "id": "chr9:g.36217396A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.36217399A>G?assembly=hg38",
        "id": "chr9:g.36217399A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28937594",
        "rs": 28937594
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-36217396-A-G?dataset=gnomad_r2_1",
        "id": "9-36217396-A-G",
        "variant": "9:36217396 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-36217399-A-G?dataset=gnomad_r3",
        "id": "9-36217399-A-G",
        "variant": "9:36217399 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-36217399-A-G?dataset=gnomad_r4",
        "id": "9-36217399-A-G",
        "variant": "9:36217399 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 36217399,
          "referenceAllele": "A",
          "start": 36217398
        }
      ],
      "hgvs": [
        "NC_000009.12:g.36217399A>G",
        "CM000671.2:g.36217399A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 36217396,
          "referenceAllele": "A",
          "start": 36217395
        }
      ],
      "hgvs": [
        "NC_000009.11:g.36217396A>G",
        "CM000671.1:g.36217396A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 36207396,
          "referenceAllele": "A",
          "start": 36207395
        }
      ],
      "hgvs": [
        "NC_000009.10:g.36207396A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 64646,
          "referenceAllele": "T",
          "start": 64645
        }
      ],
      "hgvs": [
        "NG_008246.1:g.64646T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000977"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2262,
          "referenceAllele": "T",
          "start": 2261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000396594.8:c.2228T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379839.3:p.Met743Thr",
        "hgvsWellDefined": "ENSP00000379839.3:p.Met743Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753539",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396594.8:c.2228T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001128227.3:c.2228T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379839.3:p.Met743Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001121699.1:p.Met743Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2120,
          "referenceAllele": "T",
          "start": 2119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000543356.7:c.1958T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437765.3:p.Met653Thr",
        "hgvsWellDefined": "ENSP00000437765.3:p.Met653Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759730"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2305,
          "referenceAllele": "T",
          "start": 2304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000642385.2:c.2135T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494141.2:p.Met712Thr",
        "hgvsWellDefined": "ENSP00000494141.2:p.Met712Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766712",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642385.2:c.2135T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005476.7:c.2135T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494141.2:p.Met712Thr"
          },
          "RefSeq": {
            "hgvs": "NP_005467.1:p.Met712Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2356,
          "referenceAllele": "T",
          "start": 2355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000377902.5:c.2135T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367134.4:p.Met712Thr",
        "hgvsWellDefined": "ENSP00000367134.4:p.Met712Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271797"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2340,
          "referenceAllele": "T",
          "start": 2339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000396594.7:c.2228T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379839.3:p.Met743Thr",
        "hgvsWellDefined": "ENSP00000379839.3:p.Met743Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277344"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1964,
          "referenceAllele": "T",
          "start": 1963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000447283.6:c.1913T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414760.2:p.Met638Thr",
        "hgvsWellDefined": "ENSP00000414760.2:p.Met638Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 611,
          "endIntronDirection": "+",
          "endIntronOffset": 13220,
          "referenceAllele": "A",
          "start": 611,
          "startIntronDirection": "+",
          "startIntronOffset": 13219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002090",
      "geneNCBI_id": 1211,
      "geneSymbol": "CLTA",
      "hgvs": [
        "ENST00000464497.5:c.485+13220A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419158.1:n.485+13220A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308313"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1943,
          "referenceAllele": "T",
          "start": 1942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000539208.5:c.1805T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445117.1:p.Met602Thr",
        "hgvsWellDefined": "ENSP00000445117.1:p.Met602Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361731"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2176,
          "referenceAllele": "T",
          "start": 2175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000539815.5:c.2135T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439155.1:p.Met712Thr",
        "hgvsWellDefined": "ENSP00000439155.1:p.Met712Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362067"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2120,
          "referenceAllele": "T",
          "start": 2119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000543356.6:c.2120T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437765.2:p.Met707Thr",
        "hgvsWellDefined": "ENSP00000437765.2:p.Met707Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA253680",
      "coordinates": [
        {
          "allele": "C",
          "end": 2340,
          "referenceAllele": "T",
          "start": 2339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001128227.2:c.2228T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121699.1:p.Met743Thr",
        "hgvsWellDefined": "NP_001121699.1:p.Met743Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011763"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826157868",
      "coordinates": [
        {
          "allele": "C",
          "end": 2134,
          "referenceAllele": "T",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190383.1:c.1913T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177312.1:p.Met638Thr",
        "hgvsWellDefined": "NP_001177312.1:p.Met638Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826158365",
      "coordinates": [
        {
          "allele": "C",
          "end": 1997,
          "referenceAllele": "T",
          "start": 1996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190384.1:c.1805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177313.1:p.Met602Thr",
        "hgvsWellDefined": "NP_001177313.1:p.Met602Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2134,
          "referenceAllele": "T",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190388.1:c.2120T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177317.1:p.Met707Thr",
        "hgvsWellDefined": "NP_001177317.1:p.Met707Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016170"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103140",
      "coordinates": [
        {
          "allele": "C",
          "end": 2356,
          "referenceAllele": "T",
          "start": 2355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_005476.5:c.2135T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005467.1:p.Met712Thr",
        "hgvsWellDefined": "NP_005467.1:p.Met712Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030569"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2187,
          "referenceAllele": "T",
          "start": 2186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_005251334.3:c.2075T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251391.1:p.Met692Thr",
        "hgvsWellDefined": "XP_005251391.1:p.Met692Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826157868",
      "coordinates": [
        {
          "allele": "C",
          "end": 2083,
          "referenceAllele": "T",
          "start": 2082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190383.2:c.1913T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177312.1:p.Met638Thr",
        "hgvsWellDefined": "NP_001177312.1:p.Met638Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511761"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826158365",
      "coordinates": [
        {
          "allele": "C",
          "end": 1946,
          "referenceAllele": "T",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190384.2:c.1805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177313.1:p.Met602Thr",
        "hgvsWellDefined": "NP_001177313.1:p.Met602Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103140",
      "coordinates": [
        {
          "allele": "C",
          "end": 2305,
          "referenceAllele": "T",
          "start": 2304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_005476.6:c.2135T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005467.1:p.Met712Thr",
        "hgvsWellDefined": "NP_005467.1:p.Met712Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525317"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2187,
          "referenceAllele": "T",
          "start": 2186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_005251334.4:c.2075T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251391.1:p.Met692Thr",
        "hgvsWellDefined": "XP_005251391.1:p.Met692Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533584"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2201,
          "referenceAllele": "T",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_017014167.1:c.2135T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869656.1:p.Met712Thr",
        "hgvsWellDefined": "XP_016869656.1:p.Met712Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567199"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2180,
          "referenceAllele": "T",
          "start": 2179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_017014168.1:c.1982T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869657.1:p.Met661Thr",
        "hgvsWellDefined": "XP_016869657.1:p.Met661Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA253680",
      "coordinates": [
        {
          "allele": "C",
          "end": 2262,
          "referenceAllele": "T",
          "start": 2261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001128227.3:c.2228T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121699.1:p.Met743Thr",
        "hgvsWellDefined": "NP_001121699.1:p.Met743Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676980",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396594.8:c.2228T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001128227.3:c.2228T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379839.3:p.Met743Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001121699.1:p.Met743Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826157868",
      "coordinates": [
        {
          "allele": "C",
          "end": 2083,
          "referenceAllele": "T",
          "start": 2082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190383.3:c.1913T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177312.1:p.Met638Thr",
        "hgvsWellDefined": "NP_001177312.1:p.Met638Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826158365",
      "coordinates": [
        {
          "allele": "C",
          "end": 1946,
          "referenceAllele": "T",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190384.3:c.1805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177313.1:p.Met602Thr",
        "hgvsWellDefined": "NP_001177313.1:p.Met602Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826158913",
      "coordinates": [
        {
          "allele": "C",
          "end": 2056,
          "referenceAllele": "T",
          "start": 2055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190388.2:c.1958T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177317.2:p.Met653Thr",
        "hgvsWellDefined": "NP_001177317.2:p.Met653Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679108"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828550923",
      "coordinates": [
        {
          "allele": "C",
          "end": 2152,
          "referenceAllele": "T",
          "start": 2151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001374797.1:c.1982T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361726.1:p.Met661Thr",
        "hgvsWellDefined": "NP_001361726.1:p.Met661Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693367"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828551637",
      "coordinates": [
        {
          "allele": "C",
          "end": 2099,
          "referenceAllele": "T",
          "start": 2098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001374798.1:c.1958T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361727.1:p.Met653Thr",
        "hgvsWellDefined": "NP_001361727.1:p.Met653Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693368"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103140",
      "coordinates": [
        {
          "allele": "C",
          "end": 2305,
          "referenceAllele": "T",
          "start": 2304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_005476.7:c.2135T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005467.1:p.Met712Thr",
        "hgvsWellDefined": "NP_005467.1:p.Met712Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696430",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642385.2:c.2135T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005476.7:c.2135T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494141.2:p.Met712Thr"
          },
          "RefSeq": {
            "hgvs": "NP_005467.1:p.Met712Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}