{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA595758",
  "communityStandardTitle": [
    "NM_005957.5(MTHFR):c.29G>C (p.Ser10Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1905064[alleleid]",
        "alleleId": 1905064,
        "preferredName": "NM_005957.5(MTHFR):c.29G>C (p.Ser10Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2176280",
        "RCV": [
          "RCV002610149"
        ],
        "variationId": 2176280
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-11863145-C-G",
        "id": "1-11863145-C-G",
        "variant": "1:11863145 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.11863145C>G?assembly=hg19",
        "id": "chr1:g.11863145C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.11803088C>G?assembly=hg38",
        "id": "chr1:g.11803088C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143428827",
        "rs": 143428827
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-11863145-C-G?dataset=gnomad_r2_1",
        "id": "1-11863145-C-G",
        "variant": "1:11863145 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-11803088-C-G?dataset=gnomad_r3",
        "id": "1-11803088-C-G",
        "variant": "1:11803088 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-11803088-C-G?dataset=gnomad_r4",
        "id": "1-11803088-C-G",
        "variant": "1:11803088 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 11803088,
          "referenceAllele": "C",
          "start": 11803087
        }
      ],
      "hgvs": [
        "NC_000001.11:g.11803088C>G",
        "CM000663.2:g.11803088C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 11863145,
          "referenceAllele": "C",
          "start": 11863144
        }
      ],
      "hgvs": [
        "NC_000001.10:g.11863145C>G",
        "CM000663.1:g.11863145C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 11785732,
          "referenceAllele": "C",
          "start": 11785731
        }
      ],
      "hgvs": [
        "NC_000001.9:g.11785732C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1939,
          "referenceAllele": "C",
          "start": 1938
        }
      ],
      "hgvs": [
        "NG_008766.1:g.1939C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8016,
          "referenceAllele": "G",
          "start": 8015
        }
      ],
      "hgvs": [
        "NG_013351.1:g.8016G>C",
        "LRG_726:g.8016G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002803"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 215,
          "referenceAllele": "G",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376486.3:c.29G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365669.3:p.Ser10Thr",
        "hgvsWellDefined": "ENSP00000365669.3:p.Ser10Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751771"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1204,
          "referenceAllele": "G",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376585.6:c.152G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365770.1:p.Ser51Thr",
        "hgvsWellDefined": "ENSP00000365770.1:p.Ser51Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751786"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 119,
          "referenceAllele": "G",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376590.9:c.29G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365775.3:p.Ser10Thr",
        "hgvsWellDefined": "ENSP00000365775.3:p.Ser10Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376590.9:c.29G>C"
          },
          "RefSeq": {
            "hgvs": "NM_005957.5:c.29G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365775.3:p.Ser10Thr"
          },
          "RefSeq": {
            "hgvs": "NP_005948.3:p.Ser10Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1479,
          "referenceAllele": "G",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376592.6:c.29G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365777.1:p.Ser10Thr",
        "hgvsWellDefined": "ENSP00000365777.1:p.Ser10Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751789"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 161,
          "referenceAllele": "G",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000423400.7:c.149G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398908.3:p.Ser50Thr",
        "hgvsWellDefined": "ENSP00000398908.3:p.Ser50Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754979"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000431243.6:n.810G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755354"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 296,
          "referenceAllele": "G",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641407.1:c.29G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493098.1:p.Ser10Thr",
        "hgvsWellDefined": "ENSP00000493098.1:p.Ser10Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766063"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 161,
          "referenceAllele": "G",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641437.1:n.161G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766082"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 157,
          "referenceAllele": "G",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641446.1:c.29G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493262.1:p.Ser10Thr",
        "hgvsWellDefined": "ENSP00000493262.1:p.Ser10Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766088"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 86,
          "referenceAllele": "G",
          "start": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641721.1:n.86G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766290"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 610,
          "referenceAllele": "G",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641747.1:c.29G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493116.1:p.Ser10Thr",
        "hgvsWellDefined": "ENSP00000493116.1:p.Ser10Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766307"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "G",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641759.1:n.164G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766315"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 312,
          "referenceAllele": "G",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641805.1:n.312G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641909.1:n.439G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766428"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 258,
          "referenceAllele": "G",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000642002.1:n.258G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766490"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1075,
          "referenceAllele": "G",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376486.2:c.29G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365669.2:p.Ser10Thr",
        "hgvsWellDefined": "ENSP00000365669.2:p.Ser10Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271180"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 152,
          "referenceAllele": "G",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376583.7:c.152G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365767.3:p.Ser51Thr",
        "hgvsWellDefined": "ENSP00000365767.3:p.Ser51Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1204,
          "referenceAllele": "G",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376585.5:c.152G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365770.1:p.Ser51Thr",
        "hgvsWellDefined": "ENSP00000365770.1:p.Ser51Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271232"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 213,
          "referenceAllele": "G",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376590.7:c.29G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365775.3:p.Ser10Thr",
        "hgvsWellDefined": "ENSP00000365775.3:p.Ser10Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271234"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 158,
          "referenceAllele": "G",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376592.5:c.29G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365777.1:p.Ser10Thr",
        "hgvsWellDefined": "ENSP00000365777.1:p.Ser10Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271235"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 338,
          "referenceAllele": "G",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000413656.5:c.29G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408307.1:p.Ser10Thr",
        "hgvsWellDefined": "ENSP00000408307.1:p.Ser10Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283170"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 632,
          "referenceAllele": "G",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000418034.1:c.29G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405082.1:p.Ser10Thr",
        "hgvsWellDefined": "ENSP00000405082.1:p.Ser10Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285202"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1479,
          "referenceAllele": "G",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000423400.5:c.98G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398908.1:p.Ser33Thr",
        "hgvsWellDefined": "ENSP00000398908.1:p.Ser33Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287742"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000431243.5:c.29G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400460.1:p.Ser10Thr",
        "hgvsWellDefined": "ENSP00000400460.1:p.Ser10Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291530"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579895924",
      "coordinates": [
        {
          "allele": "C",
          "end": 258,
          "referenceAllele": "G",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_005957.4:c.29G>C",
        "LRG_726t1:c.29G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005948.3:p.Ser10Thr",
        "hgvsWellDefined": "NP_005948.3:p.Ser10Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1095,
          "referenceAllele": "G",
          "start": 1094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263458.2:c.152G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263515.1:p.Ser51Thr",
        "hgvsWellDefined": "XP_005263515.1:p.Ser51Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063811"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 700,
          "referenceAllele": "G",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263460.3:c.29G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263517.1:p.Ser10Thr",
        "hgvsWellDefined": "XP_005263517.1:p.Ser10Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063812"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 568,
          "referenceAllele": "G",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263461.3:c.29G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263518.1:p.Ser10Thr",
        "hgvsWellDefined": "XP_005263518.1:p.Ser10Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063813"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 156,
          "referenceAllele": "G",
          "start": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263462.3:c.29G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263519.1:p.Ser10Thr",
        "hgvsWellDefined": "XP_005263519.1:p.Ser10Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063814"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 258,
          "referenceAllele": "G",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263463.2:c.-235G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263520.1:n.-235G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063815"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1092,
          "referenceAllele": "G",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_011541495.1:c.149G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539797.1:p.Ser50Thr",
        "hgvsWellDefined": "XP_011539797.1:p.Ser50Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108432"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1095,
          "referenceAllele": "G",
          "start": 1094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_011541496.1:c.152G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539798.1:p.Ser51Thr",
        "hgvsWellDefined": "XP_011539798.1:p.Ser51Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580202567",
      "coordinates": [
        {
          "allele": "C",
          "end": 315,
          "referenceAllele": "G",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_001330358.1:c.152G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317287.1:p.Ser51Thr",
        "hgvsWellDefined": "NP_001317287.1:p.Ser51Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516743"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263460.5:c.29G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263517.1:p.Ser10Thr",
        "hgvsWellDefined": "XP_005263517.1:p.Ser10Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535677"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 146,
          "referenceAllele": "G",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263462.4:c.29G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263519.1:p.Ser10Thr",
        "hgvsWellDefined": "XP_005263519.1:p.Ser10Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 258,
          "referenceAllele": "G",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263463.4:c.-235G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263520.1:n.-235G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 896,
          "referenceAllele": "G",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_011541495.3:c.149G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539797.1:p.Ser50Thr",
        "hgvsWellDefined": "XP_011539797.1:p.Ser50Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554458"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 175,
          "referenceAllele": "G",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_011541496.3:c.152G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539798.1:p.Ser51Thr",
        "hgvsWellDefined": "XP_011539798.1:p.Ser51Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 175,
          "referenceAllele": "G",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_017001328.2:c.152G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856817.1:p.Ser51Thr",
        "hgvsWellDefined": "XP_016856817.1:p.Ser51Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "G",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_024447198.1:c.-235G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302966.1:n.-235G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580792"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 896,
          "referenceAllele": "G",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XR_002956640.1:n.896G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602779"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579895924",
      "coordinates": [
        {
          "allele": "C",
          "end": 119,
          "referenceAllele": "G",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_005957.5:c.29G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005948.3:p.Ser10Thr",
        "hgvsWellDefined": "NP_005948.3:p.Ser10Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376590.9:c.29G>C"
          },
          "RefSeq": {
            "hgvs": "NM_005957.5:c.29G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365775.3:p.Ser10Thr"
          },
          "RefSeq": {
            "hgvs": "NP_005948.3:p.Ser10Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580202567",
      "coordinates": [
        {
          "allele": "C",
          "end": 175,
          "referenceAllele": "G",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_001330358.2:c.152G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317287.1:p.Ser51Thr",
        "hgvsWellDefined": "NP_001317287.1:p.Ser51Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718659"
    }
  ],
  "type": "nucleotide"
}