{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA18000623",
  "communityStandardTitle": [
    "NM_005957.5(MTHFR):c.1530+1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2167988[alleleid]",
        "alleleId": 2167988,
        "preferredName": "NM_005957.5(MTHFR):c.1530+1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2112706",
        "RCV": [
          "RCV003026952",
          "RCV003465902"
        ],
        "variationId": 2112706
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.11853963C>A?assembly=hg19",
        "id": "chr1:g.11853963C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.11793906C>A?assembly=hg38",
        "id": "chr1:g.11793906C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/928393582",
        "rs": 928393582
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-11853963-C-A?dataset=gnomad_r2_1",
        "id": "1-11853963-C-A",
        "variant": "1:11853963 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-11793906-C-A?dataset=gnomad_r3",
        "id": "1-11793906-C-A",
        "variant": "1:11793906 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-11793906-C-A?dataset=gnomad_r4",
        "id": "1-11793906-C-A",
        "variant": "1:11793906 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 11793906,
          "referenceAllele": "C",
          "start": 11793905
        }
      ],
      "hgvs": [
        "NC_000001.11:g.11793906C>A",
        "CM000663.2:g.11793906C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 11853963,
          "referenceAllele": "C",
          "start": 11853962
        }
      ],
      "hgvs": [
        "NC_000001.10:g.11853963C>A",
        "CM000663.1:g.11853963C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 11776550,
          "referenceAllele": "C",
          "start": 11776549
        }
      ],
      "hgvs": [
        "NC_000001.9:g.11776550C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17198,
          "referenceAllele": "G",
          "start": 17197
        }
      ],
      "hgvs": [
        "NG_013351.1:g.17198G>T",
        "LRG_726:g.17198G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002803"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2705,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2705,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376585.6:c.1653+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365770.1:n.1653+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1620,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1620,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376590.9:c.1530+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365775.3:n.1530+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376590.9:c.1530+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005957.5:c.1530+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365775.3:n.1530+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_005948.3:n.1530+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2980,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2980,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376592.6:c.1530+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365777.1:n.1530+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751789"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1662,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1662,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000423400.7:c.1650+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398908.3:n.1650+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1797,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1797,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641407.1:c.1530+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493098.1:n.1530+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1658,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1658,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641446.1:c.1530+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493262.1:n.1530+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1872,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1872,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641747.1:c.*1042+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493116.1:n.*1042+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766307"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1899,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1899,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641759.1:n.1899+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2047,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2047,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641805.1:n.2047+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1090,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1090,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641820.1:c.795+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492937.1:n.795+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1653,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1653,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376583.7:c.1653+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365767.3:n.1653+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2705,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2705,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376585.5:c.1653+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365770.1:n.1653+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1714,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1714,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376590.7:c.1530+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365775.3:n.1530+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1659,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1659,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376592.5:c.1530+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365777.1:n.1530+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1759,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1759,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_005957.4:c.1530+1G>T",
        "LRG_726t1:c.1530+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005948.3:n.1530+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2596,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2596,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263458.2:c.1653+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263515.1:n.1653+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2201,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2201,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263460.3:c.1530+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263517.1:n.1530+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2069,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2069,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263461.3:c.1530+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263518.1:n.1530+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1657,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1657,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263462.3:c.1530+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263519.1:n.1530+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063814"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1776,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1776,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263463.2:c.1284+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263520.1:n.1284+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063815"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2593,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2593,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_011541495.1:c.1650+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539797.1:n.1650+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2596,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2596,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_011541496.1:c.1653+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539798.1:n.1653+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108433"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1816,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1816,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_001330358.1:c.1653+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317287.1:n.1653+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2146,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2146,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263460.5:c.1530+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263517.1:n.1530+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1647,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1647,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263462.4:c.1530+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263519.1:n.1530+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535678"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1776,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1776,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263463.4:c.1284+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263520.1:n.1284+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2397,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2397,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_011541495.3:c.1650+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539797.1:n.1650+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554458"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1676,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1676,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_011541496.3:c.1653+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539798.1:n.1653+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1676,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1676,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_017001328.2:c.1653+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856817.1:n.1653+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1682,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1682,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_024447198.1:c.1284+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302966.1:n.1284+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580792"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2631,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2631,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XR_002956640.1:n.2631+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602779"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1620,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1620,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_005957.5:c.1530+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005948.3:n.1530+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376590.9:c.1530+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005957.5:c.1530+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365775.3:n.1530+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_005948.3:n.1530+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1676,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1676,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_001330358.2:c.1653+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317287.1:n.1653+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718659"
    }
  ],
  "type": "nucleotide"
}