{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA992733",
  "communityStandardTitle": [
    "NM_001368809.2(AMPD2):c.223-5C>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1536391[alleleid]",
        "alleleId": 1536391,
        "preferredName": "NM_001368809.2(AMPD2):c.223-5C>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1613636",
        "RCV": [
          "RCV002183239",
          "RCV003025498"
        ],
        "variationId": 1613636
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-110168279-C-A",
        "id": "1-110168279-C-A",
        "variant": "1:110168279 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.110168279C>A?assembly=hg19",
        "id": "chr1:g.110168279C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.109625657C>A?assembly=hg38",
        "id": "chr1:g.109625657C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/764953041",
        "rs": 764953041
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-110168279-C-A?dataset=gnomad_r2_1",
        "id": "1-110168279-C-A",
        "variant": "1:110168279 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-109625657-C-A?dataset=gnomad_r3",
        "id": "1-109625657-C-A",
        "variant": "1:109625657 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-109625657-C-A?dataset=gnomad_r4",
        "id": "1-109625657-C-A",
        "variant": "1:109625657 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 109625657,
          "referenceAllele": "C",
          "start": 109625656
        }
      ],
      "hgvs": [
        "NC_000001.11:g.109625657C>A",
        "CM000663.2:g.109625657C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 110168279,
          "referenceAllele": "C",
          "start": 110168278
        }
      ],
      "hgvs": [
        "NC_000001.10:g.110168279C>A",
        "CM000663.1:g.110168279C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 109969802,
          "referenceAllele": "C",
          "start": 109969801
        }
      ],
      "hgvs": [
        "NC_000001.9:g.109969802C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10845,
          "referenceAllele": "C",
          "start": 10844
        }
      ],
      "hgvs": [
        "NG_034075.1:g.10845C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005732"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 744,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 744,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000256578.8:c.223-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256578.4:n.223-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 222,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 222,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000358729.9:c.223-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351573.5:n.223-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749109"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 295,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 295,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000369840.7:c.223-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358855.3:n.223-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750484"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 579,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 579,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000474459.6:n.580-5C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 35,
          "endIntronDirection": "-",
          "endIntronOffset": 502,
          "referenceAllele": "C",
          "start": 35,
          "startIntronDirection": "-",
          "startIntronOffset": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000476688.3:c.36-503C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437025.2:n.36-503C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 183,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 183,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000486282.7:n.184-5C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 182,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 182,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000524975.2:n.183-5C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 480,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 480,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000525415.2:n.481-5C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758906"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 285,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 285,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000526301.6:n.286-5C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 77,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 77,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000527846.7:n.78-5C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759052"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 391,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 391,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000528270.6:c.*211-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434891.2:n.*211-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 926,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000528667.7:c.223-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436541.2:n.223-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759088",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000528667.7:c.223-5C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001368809.2:c.223-5C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000436541.2:n.223-5C>A"
          },
          "RefSeq": {
            "hgvs": "NP_001355738.1:n.223-5C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 344,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 344,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000531203.6:c.31-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431975.2:n.31-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759222"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 402,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 402,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000531734.6:c.142-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433739.2:n.142-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759254"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 185,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 185,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000652975.2:c.92-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499620.2:n.92-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772405"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 60,
          "referenceAllele": "C",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000654851.1:n.60C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772478"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 423,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 423,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000655992.1:c.31-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499740.1:n.31-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 222,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 222,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000659122.2:c.223-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499621.2:n.223-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 126,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 126,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000663749.1:c.92-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499739.1:n.92-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772828"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 442,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 442,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000667949.2:c.-378-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499465.2:n.-378-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 415,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 415,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000668421.1:c.*164-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499362.1:n.*164-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 193,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 193,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000679379.1:c.92-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505528.1:n.92-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 480,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 480,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000679593.1:c.223-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505999.1:n.223-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779221"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 480,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 480,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000679880.1:n.481-5C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779502"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 316,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 316,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000679892.1:c.92-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504882.1:n.92-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 309,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 309,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000679981.1:c.92-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506422.1:n.92-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 316,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 316,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680132.1:c.92-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505950.1:n.92-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 316,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 316,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680148.1:c.92-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505994.1:n.92-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779768"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 480,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 480,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680170.1:n.481-5C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779790"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 573,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 573,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680192.1:n.574-5C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 442,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 442,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680519.1:n.443-5C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 316,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 316,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680531.1:c.92-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506332.1:n.92-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780147"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 316,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 316,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680820.1:c.92-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505735.1:n.92-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 299,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 299,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680832.1:c.92-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505774.1:n.92-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 316,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 316,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680929.1:c.92-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504916.1:n.92-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 339,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 339,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681108.1:c.92-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506701.1:n.92-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 182,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 182,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681121.1:c.31-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506466.1:n.31-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 316,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 316,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681132.1:c.92-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506195.1:n.92-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 316,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 316,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681181.1:c.92-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506038.1:n.92-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780792"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 299,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 299,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681218.1:c.92-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505976.1:n.92-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 480,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 480,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681246.1:c.223-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505534.1:n.223-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 299,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 299,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681496.1:c.92-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505948.1:n.92-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 299,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 299,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681834.1:n.300-5C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781436"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 299,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 299,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681862.1:c.92-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505537.1:n.92-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781464"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 744,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 744,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000256578.7:c.385-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256578.3:n.385-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 573,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 573,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000342115.8:c.142-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345498.4:n.142-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 193,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 193,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000358729.8:c.160-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351573.4:n.160-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 295,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 295,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000369840.6:c.296-5C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS267737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 60,
          "referenceAllele": "C",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000393688.7:c.23C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377292.3:p.Pro8His",
        "hgvsWellDefined": "ENSP00000377292.3:p.Pro8His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 251,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 251,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000459643.2:n.252-5C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304578"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 432,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 432,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000474459.5:c.-378-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432344.1:n.-378-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315977"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 152,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 152,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000486282.6:n.153-5C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 423,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 423,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000526301.5:n.424-5C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 285,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 285,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000527846.5:c.286-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431904.1:n.286-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353475"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 415,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 415,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000528270.5:c.416-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434891.1:n.416-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353834"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 407,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 407,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000528454.5:c.31-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437164.1:n.31-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 878,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 878,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000528667.5:c.385-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436541.1:n.385-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 344,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 344,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000531203.5:c.31-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431975.1:n.31-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356336"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 402,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 402,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000531734.5:c.142-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433739.1:n.142-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356776"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 950,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 950,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001257360.1:c.385-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244289.1:n.385-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 233,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 233,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001257361.1:c.31-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244290.1:n.31-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019612"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 353,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 353,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001308170.1:c.160-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295099.1:n.160-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 817,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 817,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_004037.7:c.385-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004028.3:n.385-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029227"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 597,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 597,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_139156.3:c.142-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_631895.1:n.142-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 231,
          "referenceAllele": "C",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_203404.1:c.23C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_981949.1:p.Pro8His",
        "hgvsWellDefined": "NP_981949.1:p.Pro8His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045190"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 620,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 620,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XM_011541247.1:c.598-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539549.1:n.598-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108189"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 620,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 620,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XM_011541248.1:c.598-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539550.1:n.598-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108190"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 620,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 620,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XR_946607.1:n.621-5C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 795,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 795,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XM_024446431.1:c.160-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302199.1:n.160-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580095"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 795,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 795,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XM_024446432.1:c.160-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302200.1:n.160-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 795,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 795,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XR_002956282.1:n.796-5C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602444"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 926,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001257360.2:c.385-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244289.1:n.385-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664098"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 926,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001368809.2:c.223-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355738.1:n.223-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691440",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000528667.7:c.223-5C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001368809.2:c.223-5C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000436541.2:n.223-5C>A"
          },
          "RefSeq": {
            "hgvs": "NP_001355738.1:n.223-5C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 256,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 256,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_004037.9:c.223-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004028.4:n.223-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696030"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 192,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 192,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001257361.2:c.31-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244290.1:n.31-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714882"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 573,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 573,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_139156.4:c.142-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_631895.1:n.142-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729213"
    }
  ],
  "type": "nucleotide"
}