{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA595667",
  "communityStandardTitle": [
    "NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=983738[alleleid]",
        "alleleId": 983738,
        "preferredName": "NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/996033",
        "RCV": [
          "RCV001290317",
          "RCV002499515",
          "RCV003462851"
        ],
        "variationId": 996033
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-11861234-G-C",
        "id": "1-11861234-G-C",
        "variant": "1:11861234 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.11861234G>C?assembly=hg19",
        "id": "chr1:g.11861234G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.11801177G>C?assembly=hg38",
        "id": "chr1:g.11801177G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/767890671",
        "rs": 767890671
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-11861234-G-C?dataset=gnomad_r2_1",
        "id": "1-11861234-G-C",
        "variant": "1:11861234 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-11801177-G-C?dataset=gnomad_r4",
        "id": "1-11801177-G-C",
        "variant": "1:11801177 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 11801177,
          "referenceAllele": "G",
          "start": 11801176
        }
      ],
      "hgvs": [
        "NC_000001.11:g.11801177G>C",
        "CM000663.2:g.11801177G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 11861234,
          "referenceAllele": "G",
          "start": 11861233
        }
      ],
      "hgvs": [
        "NC_000001.10:g.11861234G>C",
        "CM000663.1:g.11861234G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 11783821,
          "referenceAllele": "G",
          "start": 11783820
        }
      ],
      "hgvs": [
        "NC_000001.9:g.11783821G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 28,
          "referenceAllele": "G",
          "start": 27
        }
      ],
      "hgvs": [
        "NG_008766.1:g.28G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9927,
          "referenceAllele": "C",
          "start": 9926
        }
      ],
      "hgvs": [
        "NG_013351.1:g.9927C>G",
        "LRG_726:g.9927C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002803"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 645,
          "referenceAllele": "C",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376486.3:c.459C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365669.3:p.Ile153Met",
        "hgvsWellDefined": "ENSP00000365669.3:p.Ile153Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751771"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1634,
          "referenceAllele": "C",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376585.6:c.582C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365770.1:p.Ile194Met",
        "hgvsWellDefined": "ENSP00000365770.1:p.Ile194Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751786"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 549,
          "referenceAllele": "C",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376590.9:c.459C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365775.3:p.Ile153Met",
        "hgvsWellDefined": "ENSP00000365775.3:p.Ile153Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376590.9:c.459C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005957.5:c.459C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365775.3:p.Ile153Met"
          },
          "RefSeq": {
            "hgvs": "NP_005948.3:p.Ile153Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1909,
          "referenceAllele": "C",
          "start": 1908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376592.6:c.459C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365777.1:p.Ile153Met",
        "hgvsWellDefined": "ENSP00000365777.1:p.Ile153Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751789"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 591,
          "referenceAllele": "C",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000423400.7:c.579C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398908.3:p.Ile193Met",
        "hgvsWellDefined": "ENSP00000398908.3:p.Ile193Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754979"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 726,
          "referenceAllele": "C",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641407.1:c.459C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493098.1:p.Ile153Met",
        "hgvsWellDefined": "ENSP00000493098.1:p.Ile153Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766063"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 591,
          "referenceAllele": "C",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641437.1:n.591C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 587,
          "referenceAllele": "C",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641446.1:c.459C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493262.1:p.Ile153Met",
        "hgvsWellDefined": "ENSP00000493262.1:p.Ile153Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766088"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 516,
          "referenceAllele": "C",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641721.1:n.516C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766290"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 817,
          "endIntronDirection": "-",
          "endIntronOffset": 854,
          "referenceAllele": "C",
          "start": 817,
          "startIntronDirection": "-",
          "startIntronOffset": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641747.1:c.237-855C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493116.1:n.237-855C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766307"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 594,
          "referenceAllele": "C",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641759.1:n.594C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766315"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 742,
          "referenceAllele": "C",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641805.1:n.742C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641909.1:n.869C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766428"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 582,
          "referenceAllele": "C",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376583.7:c.582C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365767.3:p.Ile194Met",
        "hgvsWellDefined": "ENSP00000365767.3:p.Ile194Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1634,
          "referenceAllele": "C",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376585.5:c.582C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365770.1:p.Ile194Met",
        "hgvsWellDefined": "ENSP00000365770.1:p.Ile194Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 643,
          "referenceAllele": "C",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376590.7:c.459C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365775.3:p.Ile153Met",
        "hgvsWellDefined": "ENSP00000365775.3:p.Ile153Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271234"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 588,
          "referenceAllele": "C",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376592.5:c.459C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365777.1:p.Ile153Met",
        "hgvsWellDefined": "ENSP00000365777.1:p.Ile153Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271235"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579898759",
      "coordinates": [
        {
          "allele": "G",
          "end": 688,
          "referenceAllele": "C",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_005957.4:c.459C>G",
        "LRG_726t1:c.459C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005948.3:p.Ile153Met",
        "hgvsWellDefined": "NP_005948.3:p.Ile153Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1525,
          "referenceAllele": "C",
          "start": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263458.2:c.582C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263515.1:p.Ile194Met",
        "hgvsWellDefined": "XP_005263515.1:p.Ile194Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063811"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1130,
          "referenceAllele": "C",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263460.3:c.459C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263517.1:p.Ile153Met",
        "hgvsWellDefined": "XP_005263517.1:p.Ile153Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063812"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 998,
          "referenceAllele": "C",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263461.3:c.459C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263518.1:p.Ile153Met",
        "hgvsWellDefined": "XP_005263518.1:p.Ile153Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063813"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263462.3:c.459C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263519.1:p.Ile153Met",
        "hgvsWellDefined": "XP_005263519.1:p.Ile153Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063814"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "referenceAllele": "C",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263463.2:c.213C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263520.1:p.Ile71Met",
        "hgvsWellDefined": "XP_005263520.1:p.Ile71Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063815"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1522,
          "referenceAllele": "C",
          "start": 1521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_011541495.1:c.579C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539797.1:p.Ile193Met",
        "hgvsWellDefined": "XP_011539797.1:p.Ile193Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108432"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1525,
          "referenceAllele": "C",
          "start": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_011541496.1:c.582C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539798.1:p.Ile194Met",
        "hgvsWellDefined": "XP_011539798.1:p.Ile194Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499249659",
      "coordinates": [
        {
          "allele": "G",
          "end": 745,
          "referenceAllele": "C",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_001330358.1:c.582C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317287.1:p.Ile194Met",
        "hgvsWellDefined": "NP_001317287.1:p.Ile194Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516743"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1075,
          "referenceAllele": "C",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263460.5:c.459C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263517.1:p.Ile153Met",
        "hgvsWellDefined": "XP_005263517.1:p.Ile153Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535677"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 576,
          "referenceAllele": "C",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263462.4:c.459C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263519.1:p.Ile153Met",
        "hgvsWellDefined": "XP_005263519.1:p.Ile153Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535678"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "referenceAllele": "C",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263463.4:c.213C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263520.1:p.Ile71Met",
        "hgvsWellDefined": "XP_005263520.1:p.Ile71Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1326,
          "referenceAllele": "C",
          "start": 1325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_011541495.3:c.579C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539797.1:p.Ile193Met",
        "hgvsWellDefined": "XP_011539797.1:p.Ile193Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554458"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 605,
          "referenceAllele": "C",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_011541496.3:c.582C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539798.1:p.Ile194Met",
        "hgvsWellDefined": "XP_011539798.1:p.Ile194Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554459"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 605,
          "referenceAllele": "C",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_017001328.2:c.582C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856817.1:p.Ile194Met",
        "hgvsWellDefined": "XP_016856817.1:p.Ile194Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 611,
          "referenceAllele": "C",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_024447198.1:c.213C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302966.1:p.Ile71Met",
        "hgvsWellDefined": "XP_024302966.1:p.Ile71Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580792"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1326,
          "referenceAllele": "C",
          "start": 1325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XR_002956640.1:n.1326C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602779"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579898759",
      "coordinates": [
        {
          "allele": "G",
          "end": 549,
          "referenceAllele": "C",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_005957.5:c.459C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005948.3:p.Ile153Met",
        "hgvsWellDefined": "NP_005948.3:p.Ile153Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376590.9:c.459C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005957.5:c.459C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365775.3:p.Ile153Met"
          },
          "RefSeq": {
            "hgvs": "NP_005948.3:p.Ile153Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499249659",
      "coordinates": [
        {
          "allele": "G",
          "end": 605,
          "referenceAllele": "C",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_001330358.2:c.582C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317287.1:p.Ile194Met",
        "hgvsWellDefined": "NP_001317287.1:p.Ile194Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718659"
    }
  ],
  "type": "nucleotide"
}