{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA212731",
  "communityStandardTitle": [
    "NM_000398.7(CYB5R3):c.734-1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15277[alleleid]",
        "alleleId": 15277,
        "preferredName": "NM_000398.7(CYB5R3):c.734-1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/238",
        "RCV": [
          "RCV000000262"
        ],
        "variationId": 238
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.43015952C>A?assembly=hg19",
        "id": "chr22:g.43015952C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.42619946C>A?assembly=hg38",
        "id": "chr22:g.42619946C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794728011",
        "rs": 794728011
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42619946-C-A?dataset=gnomad_r4",
        "id": "22-42619946-C-A",
        "variant": "22:42619946 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 42619946,
          "referenceAllele": "C",
          "start": 42619945
        }
      ],
      "hgvs": [
        "NC_000022.11:g.42619946C>A",
        "CM000684.2:g.42619946C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 43015952,
          "referenceAllele": "C",
          "start": 43015951
        }
      ],
      "hgvs": [
        "NC_000022.10:g.43015952C>A",
        "CM000684.1:g.43015952C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 41345896,
          "referenceAllele": "C",
          "start": 41345895
        }
      ],
      "hgvs": [
        "NC_000022.9:g.41345896C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 34454,
          "referenceAllele": "G",
          "start": 34453
        }
      ],
      "hgvs": [
        "NG_012194.1:g.34454G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002277"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 942,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 942,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000361740.9:c.866-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354468.5:n.866-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 860,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 860,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000402438.6:c.665-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385679.1:n.665-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824566"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 771,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 771,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000407332.6:c.752-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384457.2:n.752-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824593"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1049,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1049,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000407623.8:c.665-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384834.3:n.665-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824597"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 270,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 270,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "hgvs": [
        "ENST00000617178.5:c.271-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2473,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2473,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000684963.1:n.2474-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 325,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 325,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000685184.1:n.326-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 879,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 879,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000686523.1:c.*683-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508940.1:n.*683-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830614"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1009,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1009,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000687183.1:n.1010-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 897,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 897,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000687198.1:c.665-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508492.1:n.665-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 957,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 957,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000688117.1:c.833-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509015.1:n.833-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 502,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000688244.1:c.434-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510355.1:n.434-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831520"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1355,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1355,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000689001.1:n.1356-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 696,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 696,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000689195.1:c.650-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509895.1:n.650-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832045"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 900,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 900,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000689239.1:n.901-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832068"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 994,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 994,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000689795.1:n.995-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832370"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 869,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 869,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000690835.1:c.*113-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509038.1:n.*113-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1488,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1488,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000690993.1:n.1489-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 654,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 654,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000691295.1:c.*217-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508706.1:n.*217-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 994,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 994,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000692152.1:c.665-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509317.1:n.665-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1220,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1220,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000692344.1:n.1221-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 822,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 822,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000693363.1:c.776-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510411.1:n.776-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 740,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 740,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000693367.1:c.734-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508815.1:n.734-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834211"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 810,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000352397.10:c.734-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338461.6:n.734-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748487",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352397.10:c.734-1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000398.7:c.734-1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338461.6:n.734-1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_000389.1:n.734-1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 986,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 986,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000352397.9:c.734-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338461.6:n.734-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262862"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 832,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 832,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000361740.8:c.833-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354468.4:n.833-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265634"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 848,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 848,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000402438.5:c.665-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385679.1:n.665-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279519"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 756,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000407332.5:c.665-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384457.1:n.665-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1049,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1049,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000407623.7:c.665-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384834.3:n.665-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2867,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2867,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000470741.1:n.2868-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313105"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 817,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 817,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_000398.6:c.734-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000389.1:n.734-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1061,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1061,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_001129819.2:c.665-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123291.1:n.665-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 957,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 957,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_001171660.1:c.833-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165131.1:n.833-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 877,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 877,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_001171661.1:c.665-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165132.1:n.665-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 816,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 816,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_007326.4:c.665-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_015565.1:n.665-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 810,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_000398.7:c.734-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000389.1:n.734-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662427",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352397.10:c.734-1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000398.7:c.734-1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338461.6:n.734-1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_000389.1:n.734-1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 949,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 949,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_001171660.2:c.833-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165131.1:n.833-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713381"
    }
  ],
  "type": "nucleotide"
}