{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4067022",
  "communityStandardTitle": [
    "NM_001374828.1(ARID1B):c.2345A>G (p.Gln782Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2411800[alleleid]",
        "alleleId": 2411800,
        "preferredName": "NM_001374828.1(ARID1B):c.2345A>G (p.Gln782Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2439188",
        "RCV": [
          "RCV003141523",
          "RCV003542472"
        ],
        "variationId": 2439188
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-157405893-A-G",
        "id": "6-157405893-A-G",
        "variant": "6:157405893 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.157405893A>G?assembly=hg19",
        "id": "chr6:g.157405893A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.157084759A>G?assembly=hg38",
        "id": "chr6:g.157084759A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368202669",
        "rs": 368202669
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-157405893-A-G?dataset=gnomad_r2_1",
        "id": "6-157405893-A-G",
        "variant": "6:157405893 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-157084759-A-G?dataset=gnomad_r3",
        "id": "6-157084759-A-G",
        "variant": "6:157084759 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-157084759-A-G?dataset=gnomad_r4",
        "id": "6-157084759-A-G",
        "variant": "6:157084759 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 157084759,
          "referenceAllele": "A",
          "start": 157084758
        }
      ],
      "hgvs": [
        "NC_000006.12:g.157084759A>G",
        "CM000668.2:g.157084759A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 157405893,
          "referenceAllele": "A",
          "start": 157405892
        }
      ],
      "hgvs": [
        "NC_000006.11:g.157405893A>G",
        "CM000668.1:g.157405893A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 157447585,
          "referenceAllele": "A",
          "start": 157447584
        }
      ],
      "hgvs": [
        "NC_000006.10:g.157447585A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 311830,
          "referenceAllele": "A",
          "start": 311829
        }
      ],
      "hgvs": [
        "NG_032093.1:g.311830A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 311830,
          "referenceAllele": "A",
          "start": 311829
        }
      ],
      "hgvs": [
        "NG_032093.2:g.311830A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616333"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 313734,
          "referenceAllele": "A",
          "start": 313733
        }
      ],
      "hgvs": [
        "NG_066624.1:g.313734A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706193"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2345,
          "referenceAllele": "A",
          "start": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000350026.11:c.2345A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000055163.8:p.Gln782Arg",
        "hgvsWellDefined": "ENSP00000055163.8:p.Gln782Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913972"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2345,
          "referenceAllele": "A",
          "start": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000414678.8:c.2345A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412835.3:p.Gln782Arg",
        "hgvsWellDefined": "ENSP00000412835.3:p.Gln782Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2345,
          "referenceAllele": "A",
          "start": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000637015.2:c.2345A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489729.2:p.Gln782Arg",
        "hgvsWellDefined": "ENSP00000489729.2:p.Gln782Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906363"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 359,
          "referenceAllele": "A",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000319584.11:c.359A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313006.7:p.Gln120Arg",
        "hgvsWellDefined": "ENSP00000313006.7:p.Gln120Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746306"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3310,
          "referenceAllele": "A",
          "start": 3309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000346085.10:c.2384A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344546.5:p.Gln795Arg",
        "hgvsWellDefined": "ENSP00000344546.5:p.Gln795Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2096,
          "referenceAllele": "A",
          "start": 2095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000350026.10:c.2096A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000055163.7:p.Gln699Arg",
        "hgvsWellDefined": "ENSP00000055163.7:p.Gln699Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 593,
          "referenceAllele": "A",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000414678.7:c.593A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412835.2:p.Gln198Arg",
        "hgvsWellDefined": "ENSP00000412835.2:p.Gln198Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754582"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 246,
          "referenceAllele": "A",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000452544.2:n.246A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756387"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 433,
          "referenceAllele": "A",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000635849.1:c.-155A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490948.1:n.-155A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762681"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2648,
          "referenceAllele": "A",
          "start": 2647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000636930.2:c.2345A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490491.2:p.Gln782Arg",
        "hgvsWellDefined": "ENSP00000490491.2:p.Gln782Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000636930.2:c.2345A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001374828.1:c.2345A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490491.2:p.Gln782Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001361757.1:p.Gln782Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 209,
          "referenceAllele": "A",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000637003.1:c.-155A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489666.1:n.-155A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763539"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 347,
          "referenceAllele": "A",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000637904.1:c.-155A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490550.1:n.-155A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2135,
          "referenceAllele": "A",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000647938.1:c.2135A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498155.1:p.Gln712Arg",
        "hgvsWellDefined": "ENSP00000498155.1:p.Gln712Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769702"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1094,
          "referenceAllele": "A",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000674190.1:n.1094A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 362,
          "referenceAllele": "A",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000319584.10:c.362A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313006.6:p.Gln121Arg",
        "hgvsWellDefined": "ENSP00000313006.6:p.Gln121Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257695"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2691,
          "referenceAllele": "A",
          "start": 2690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000346085.9:c.2135A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344546.4:p.Gln712Arg",
        "hgvsWellDefined": "ENSP00000344546.4:p.Gln712Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262224"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2097,
          "referenceAllele": "A",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000350026.9:c.2096A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000055163.7:p.Gln699Arg",
        "hgvsWellDefined": "ENSP00000055163.7:p.Gln699Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262649"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 593,
          "referenceAllele": "A",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000414678.6:c.593A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412835.2:p.Gln198Arg",
        "hgvsWellDefined": "ENSP00000412835.2:p.Gln198Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283628"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 204,
          "referenceAllele": "A",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000452544.1:n.204A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS301674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2096,
          "referenceAllele": "A",
          "start": 2095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_017519.2:c.2096A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_059989.2:p.Gln699Arg",
        "hgvsWellDefined": "NP_059989.2:p.Gln699Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034978"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829950507",
      "coordinates": [
        {
          "allele": "G",
          "end": 2135,
          "referenceAllele": "A",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_020732.3:c.2135A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_065783.3:p.Gln712Arg",
        "hgvsWellDefined": "NP_065783.3:p.Gln712Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036539"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2134,
          "referenceAllele": "A",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_005267069.3:c.2096A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267126.2:p.Gln699Arg",
        "hgvsWellDefined": "XP_005267126.2:p.Gln699Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065283"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1142,
          "referenceAllele": "A",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_011535984.1:c.1046A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534286.1:p.Gln349Arg",
        "hgvsWellDefined": "XP_011534286.1:p.Gln349Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102986"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1111,
          "referenceAllele": "A",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_011535985.1:c.1046A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534287.1:p.Gln349Arg",
        "hgvsWellDefined": "XP_011534287.1:p.Gln349Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 656,
          "referenceAllele": "A",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_011535986.1:c.626A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534288.1:p.Gln209Arg",
        "hgvsWellDefined": "XP_011534288.1:p.Gln209Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102988"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 260,
          "referenceAllele": "A",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_011535987.1:c.245A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534289.1:p.Gln82Arg",
        "hgvsWellDefined": "XP_011534289.1:p.Gln82Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102989"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827385442",
      "coordinates": [
        {
          "allele": "G",
          "end": 2171,
          "referenceAllele": "A",
          "start": 2170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_001346813.1:c.2096A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333742.1:p.Gln699Arg",
        "hgvsWellDefined": "NP_001333742.1:p.Gln699Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517678"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 240,
          "referenceAllele": "A",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_001363725.1:c.-155A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350654.1:n.-155A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523510"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2253,
          "referenceAllele": "A",
          "start": 2252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_011535984.2:c.2177A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534286.2:p.Gln726Arg",
        "hgvsWellDefined": "XP_011534286.2:p.Gln726Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552267"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2253,
          "referenceAllele": "A",
          "start": 2252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_017011103.2:c.2177A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866592.1:p.Gln726Arg",
        "hgvsWellDefined": "XP_016866592.1:p.Gln726Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2252,
          "referenceAllele": "A",
          "start": 2251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_017011104.1:c.2177A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866593.1:p.Gln726Arg",
        "hgvsWellDefined": "XP_016866593.1:p.Gln726Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2253,
          "referenceAllele": "A",
          "start": 2252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_017011105.2:c.2177A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866594.1:p.Gln726Arg",
        "hgvsWellDefined": "XP_016866594.1:p.Gln726Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565024"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2252,
          "referenceAllele": "A",
          "start": 2251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_017011106.2:c.2177A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866595.1:p.Gln726Arg",
        "hgvsWellDefined": "XP_016866595.1:p.Gln726Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565025"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2253,
          "referenceAllele": "A",
          "start": 2252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_017011107.2:c.2177A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866596.1:p.Gln726Arg",
        "hgvsWellDefined": "XP_016866596.1:p.Gln726Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565026"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2260,
          "referenceAllele": "A",
          "start": 2259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XR_002956289.1:n.2260A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602451"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 235,
          "referenceAllele": "A",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_001363725.2:c.-155A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350654.1:n.-155A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690754"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828447853",
      "coordinates": [
        {
          "allele": "G",
          "end": 3304,
          "referenceAllele": "A",
          "start": 3303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_001371656.1:c.2384A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358585.1:p.Gln795Arg",
        "hgvsWellDefined": "NP_001358585.1:p.Gln795Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580236093",
      "coordinates": [
        {
          "allele": "G",
          "end": 2687,
          "referenceAllele": "A",
          "start": 2686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_001374820.1:c.2384A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361749.1:p.Gln795Arg",
        "hgvsWellDefined": "NP_001361749.1:p.Gln795Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828555072",
      "coordinates": [
        {
          "allele": "G",
          "end": 2648,
          "referenceAllele": "A",
          "start": 2647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_001374828.1:c.2345A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361757.1:p.Gln782Arg",
        "hgvsWellDefined": "NP_001361757.1:p.Gln782Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693389",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000636930.2:c.2345A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001374828.1:c.2345A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490491.2:p.Gln782Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001361757.1:p.Gln782Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829868395",
      "coordinates": [
        {
          "allele": "G",
          "end": 2648,
          "referenceAllele": "A",
          "start": 2647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_017519.3:c.2345A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_059989.3:p.Gln782Arg",
        "hgvsWellDefined": "NP_059989.3:p.Gln782Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697814"
    }
  ],
  "type": "nucleotide"
}