{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA362580253",
  "communityStandardTitle": [
    "NM_004568.6(SERPINB6):c.730-1G>T"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5106224",
        "active": true,
        "id": "COSM5106224"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1694193[alleleid]",
        "alleleId": 1694193,
        "preferredName": "NM_004568.6(SERPINB6):c.730-1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1701803",
        "RCV": [
          "RCV002275701"
        ],
        "variationId": 1701803
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.2948934C>A?assembly=hg19",
        "id": "chr6:g.2948934C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.2948700C>A?assembly=hg38",
        "id": "chr6:g.2948700C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1223476137",
        "rs": 1223476137
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 2948700,
          "referenceAllele": "C",
          "start": 2948699
        }
      ],
      "hgvs": [
        "NC_000006.12:g.2948700C>A",
        "CM000668.2:g.2948700C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 2948934,
          "referenceAllele": "C",
          "start": 2948933
        }
      ],
      "hgvs": [
        "NC_000006.11:g.2948934C>A",
        "CM000668.1:g.2948934C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 2893933,
          "referenceAllele": "C",
          "start": 2893932
        }
      ],
      "hgvs": [
        "NC_000006.10:g.2893933C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28466,
          "referenceAllele": "G",
          "start": 28465
        }
      ],
      "hgvs": [
        "NG_027692.1:g.28466G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003915"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 809,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 809,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "ENST00000380520.6:c.730-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369891.1:n.730-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752396"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 774,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 774,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "ENST00000380539.7:c.730-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369912.2:n.730-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752400",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380539.7:c.730-1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004568.6:c.730-1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369912.2:n.730-1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_004559.4:n.730-1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1030,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1030,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "ENST00000612421.3:c.787-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484343.1:n.787-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1507,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1507,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "ENST00000616722.4:c.742-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481398.1:n.742-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762075"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 859,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 859,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "ENST00000642543.1:c.598-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494161.1:n.598-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766804"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1097,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1097,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "ENST00000643098.1:c.730-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493936.1:n.730-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2724,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2724,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "ENST00000643314.1:n.2725-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5083,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 5083,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "ENST00000644178.1:c.730-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496073.1:n.730-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767681"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 987,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 987,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "ENST00000644388.1:c.730-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494650.1:n.730-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1012,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1012,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "ENST00000644693.1:c.*603-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495361.1:n.*603-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1590,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1590,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "ENST00000644697.1:n.1591-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767948"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1082,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1082,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "ENST00000645580.1:c.742-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495362.1:n.742-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1648,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1648,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "ENST00000646722.1:n.1649-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3063,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3063,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "ENST00000647157.1:n.3064-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769266"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2951,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2951,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "ENST00000649845.1:c.*844-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497149.1:n.*844-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770792"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1063,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1063,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "ENST00000335686.9:c.730-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338358.5:n.730-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2724,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2724,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "ENST00000380520.5:c.730-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369891.1:n.730-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272957"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 954,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 954,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "ENST00000380524.5:c.730-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369896.1:n.730-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272959"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 829,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 829,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "ENST00000380529.5:c.730-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369901.1:n.730-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 797,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 797,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "ENST00000380539.5:c.730-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369912.1:n.730-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 834,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 834,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "ENST00000380546.7:c.730-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369919.3:n.730-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272971"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1030,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1030,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "ENST00000612421.2:c.787-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484343.1:n.787-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1507,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1507,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "ENST00000616722.3:c.742-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481398.1:n.742-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1507,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1507,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "NM_001195291.2:c.742-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182220.2:n.742-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016584"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 932,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 932,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "NM_001271822.1:c.772-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258751.1:n.772-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020656"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1030,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1030,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "NM_001271823.1:c.787-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258752.1:n.787-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020657"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1414,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "NM_001271824.1:c.730-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258753.1:n.730-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1016,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1016,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "NM_001271825.1:c.730-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258754.1:n.730-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020659"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1657,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1657,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "NM_001297699.1:c.730-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284628.1:n.730-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1313,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1313,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "NM_001297700.1:c.730-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284629.1:n.730-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024714"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1372,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1372,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "NM_004568.5:c.730-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004559.4:n.730-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1310,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1310,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "XM_011514672.1:c.964-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512974.1:n.964-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1464,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1464,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "XM_011514673.1:c.730-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512975.1:n.730-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1035,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1035,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "XM_011514674.1:c.730-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512976.1:n.730-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081899"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 944,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 944,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "XM_011514675.1:c.598-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512977.1:n.598-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 823,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 823,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "XM_011514676.1:c.598-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512978.1:n.598-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1049,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1049,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "XM_011514674.2:c.730-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512976.1:n.730-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 859,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 859,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "XM_011514676.2:c.598-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512978.1:n.598-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 871,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 871,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "XM_017010940.1:c.742-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866429.1:n.742-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2500,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2500,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "XM_017010941.1:c.598-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866430.1:n.598-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 904,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 904,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "XM_024446462.1:c.742-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302230.1:n.742-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 975,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 975,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "XM_024446463.1:c.742-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302231.1:n.742-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1413,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1413,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "XM_024446464.1:c.730-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302232.1:n.730-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 951,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 951,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "XM_024446465.1:c.598-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302233.1:n.598-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 909,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 909,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "NM_001195291.3:c.742-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182220.2:n.742-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1190,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1190,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "NM_001271822.2:c.772-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258751.1:n.772-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1271,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1271,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "NM_001271823.2:c.787-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258752.1:n.787-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681207"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 816,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 816,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "NM_001271824.2:c.730-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258753.1:n.730-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 976,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 976,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "NM_001271825.2:c.730-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258754.1:n.730-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1059,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1059,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "NM_001297699.2:c.730-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284628.1:n.730-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683099"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 941,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "NM_001297700.2:c.730-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284629.1:n.730-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683100"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 951,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 951,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "NM_001374515.1:c.742-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361444.1:n.742-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 767,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 767,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "NM_001374516.1:c.730-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361445.1:n.730-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 859,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 859,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "NM_001374517.1:c.598-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361446.1:n.598-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 774,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 774,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "NM_004568.6:c.730-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004559.4:n.730-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696182",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380539.7:c.730-1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004568.6:c.730-1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369912.2:n.730-1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_004559.4:n.730-1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 778,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 778,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008950",
      "geneNCBI_id": 5269,
      "geneSymbol": "SERPINB6",
      "hgvs": [
        "NR_164657.1:n.779-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705757"
    }
  ],
  "type": "nucleotide"
}