{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA131963136",
  "communityStandardTitle": [
    "NM_015238.3(WWC1):c.3151-1137G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.167893708G>A?assembly=hg19",
        "id": "chr5:g.167893708G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.168466703G>A?assembly=hg38",
        "id": "chr5:g.168466703G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/12514426",
        "rs": 12514426
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-167893708-G-A?dataset=gnomad_r2_1",
        "id": "5-167893708-G-A",
        "variant": "5:167893708 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-168466703-G-A?dataset=gnomad_r3",
        "id": "5-168466703-G-A",
        "variant": "5:168466703 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-168466703-G-A?dataset=gnomad_r4",
        "id": "5-168466703-G-A",
        "variant": "5:168466703 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 168466703,
          "referenceAllele": "G",
          "start": 168466702
        }
      ],
      "hgvs": [
        "NC_000005.10:g.168466703G>A",
        "CM000667.2:g.168466703G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 167893708,
          "referenceAllele": "G",
          "start": 167893707
        }
      ],
      "hgvs": [
        "NC_000005.9:g.167893708G>A",
        "CM000667.1:g.167893708G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 167826286,
          "referenceAllele": "G",
          "start": 167826285
        }
      ],
      "hgvs": [
        "NC_000005.8:g.167826286G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 179644,
          "referenceAllele": "G",
          "start": 179643
        }
      ],
      "hgvs": [
        "NG_016712.1:g.179644G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003257"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3658,
          "endIntronDirection": "-",
          "endIntronOffset": 1136,
          "referenceAllele": "G",
          "start": 3658,
          "startIntronDirection": "-",
          "startIntronOffset": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "ENST00000265293.9:c.3151-1137G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265293.4:n.3151-1137G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742810",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265293.9:c.3151-1137G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015238.3:c.3151-1137G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265293.4:n.3151-1137G>A"
          },
          "RefSeq": {
            "hgvs": "NP_056053.1:n.3151-1137G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3652,
          "endIntronDirection": "-",
          "endIntronOffset": 1136,
          "referenceAllele": "G",
          "start": 3652,
          "startIntronDirection": "-",
          "startIntronOffset": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "ENST00000265293.8:c.3151-1137G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265293.4:n.3151-1137G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251708"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3052,
          "endIntronDirection": "-",
          "endIntronOffset": 1139,
          "referenceAllele": "G",
          "start": 3052,
          "startIntronDirection": "-",
          "startIntronOffset": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "ENST00000393895.7:c.3053-1140G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS275864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3171,
          "endIntronDirection": "-",
          "endIntronOffset": 1136,
          "referenceAllele": "G",
          "start": 3171,
          "startIntronDirection": "-",
          "startIntronOffset": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "ENST00000521089.5:c.3169-1137G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427772.1:n.3169-1137G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 35,
          "endIntronDirection": "-",
          "endIntronOffset": 1139,
          "referenceAllele": "G",
          "start": 35,
          "startIntronDirection": "-",
          "startIntronOffset": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "ENST00000521391.1:n.36-1140G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS348223"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 966,
          "endIntronDirection": "-",
          "endIntronOffset": 1136,
          "referenceAllele": "G",
          "start": 966,
          "startIntronDirection": "-",
          "startIntronOffset": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "ENST00000522140.1:n.967-1137G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS348815"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1146,
          "endIntronDirection": "-",
          "endIntronOffset": 1139,
          "referenceAllele": "G",
          "start": 1146,
          "startIntronDirection": "-",
          "startIntronOffset": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "ENST00000524038.5:c.1147-1140G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428084.1:n.1147-1140G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350283"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2479,
          "endIntronDirection": "-",
          "endIntronOffset": 1139,
          "referenceAllele": "G",
          "start": 2479,
          "startIntronDirection": "-",
          "startIntronOffset": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "ENST00000524228.5:c.2480-1140G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350434"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 966,
          "endIntronDirection": "-",
          "endIntronOffset": 1136,
          "referenceAllele": "G",
          "start": 966,
          "startIntronDirection": "-",
          "startIntronOffset": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "ENST00000619752.1:c.967-1137G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483898.1:n.967-1137G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404506"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3261,
          "endIntronDirection": "-",
          "endIntronOffset": 1136,
          "referenceAllele": "G",
          "start": 3261,
          "startIntronDirection": "-",
          "startIntronOffset": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "NM_001161661.1:c.3169-1137G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155133.1:n.3169-1137G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014287"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3261,
          "endIntronDirection": "-",
          "endIntronOffset": 1139,
          "referenceAllele": "G",
          "start": 3261,
          "startIntronDirection": "-",
          "startIntronOffset": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "NM_001161662.1:c.3169-1140G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155134.1:n.3169-1140G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014288"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3243,
          "endIntronDirection": "-",
          "endIntronOffset": 1136,
          "referenceAllele": "G",
          "start": 3243,
          "startIntronDirection": "-",
          "startIntronOffset": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "NM_015238.2:c.3151-1137G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056053.1:n.3151-1137G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3233,
          "endIntronDirection": "-",
          "endIntronOffset": 1136,
          "referenceAllele": "G",
          "start": 3233,
          "startIntronDirection": "-",
          "startIntronOffset": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "XM_005265850.1:c.3184-1137G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265907.1:n.3184-1137G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064828"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3200,
          "endIntronDirection": "-",
          "endIntronOffset": 1139,
          "referenceAllele": "G",
          "start": 3200,
          "startIntronDirection": "-",
          "startIntronOffset": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "XM_005265853.1:c.3151-1140G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265910.1:n.3151-1140G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3416,
          "endIntronDirection": "-",
          "endIntronOffset": 1136,
          "referenceAllele": "G",
          "start": 3416,
          "startIntronDirection": "-",
          "startIntronOffset": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "XM_011534485.1:c.3367-1137G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532787.1:n.3367-1137G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101503"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3416,
          "endIntronDirection": "-",
          "endIntronOffset": 1139,
          "referenceAllele": "G",
          "start": 3416,
          "startIntronDirection": "-",
          "startIntronOffset": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "XM_011534486.1:c.3367-1140G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532788.1:n.3367-1140G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101504"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3401,
          "endIntronDirection": "-",
          "endIntronOffset": 1136,
          "referenceAllele": "G",
          "start": 3401,
          "startIntronDirection": "-",
          "startIntronOffset": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "XM_011534487.1:c.3352-1137G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532789.1:n.3352-1137G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101505"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3398,
          "endIntronDirection": "-",
          "endIntronOffset": 1136,
          "referenceAllele": "G",
          "start": 3398,
          "startIntronDirection": "-",
          "startIntronOffset": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "XM_011534488.1:c.3349-1137G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532790.1:n.3349-1137G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101506"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3401,
          "endIntronDirection": "-",
          "endIntronOffset": 1139,
          "referenceAllele": "G",
          "start": 3401,
          "startIntronDirection": "-",
          "startIntronOffset": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "XM_011534489.1:c.3352-1140G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532791.1:n.3352-1140G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101507"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3398,
          "endIntronDirection": "-",
          "endIntronOffset": 1139,
          "referenceAllele": "G",
          "start": 3398,
          "startIntronDirection": "-",
          "startIntronOffset": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "XM_011534490.1:c.3349-1140G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532792.1:n.3349-1140G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101508"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3383,
          "endIntronDirection": "-",
          "endIntronOffset": 1136,
          "referenceAllele": "G",
          "start": 3383,
          "startIntronDirection": "-",
          "startIntronOffset": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "XM_011534491.1:c.3334-1137G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532793.1:n.3334-1137G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101509"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3200,
          "endIntronDirection": "-",
          "endIntronOffset": 1139,
          "referenceAllele": "G",
          "start": 3200,
          "startIntronDirection": "-",
          "startIntronOffset": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "XM_005265853.2:c.3151-1140G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265910.1:n.3151-1140G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536137"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3383,
          "endIntronDirection": "-",
          "endIntronOffset": 1139,
          "referenceAllele": "G",
          "start": 3383,
          "startIntronDirection": "-",
          "startIntronOffset": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "XM_017009276.1:c.3334-1140G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864765.1:n.3334-1140G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3668,
          "endIntronDirection": "-",
          "endIntronOffset": 1136,
          "referenceAllele": "G",
          "start": 3668,
          "startIntronDirection": "-",
          "startIntronOffset": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "XM_017009278.1:c.2902-1137G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864767.1:n.2902-1137G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563625"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3676,
          "endIntronDirection": "-",
          "endIntronOffset": 1136,
          "referenceAllele": "G",
          "start": 3676,
          "startIntronDirection": "-",
          "startIntronOffset": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "NM_001161661.2:c.3169-1137G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155133.1:n.3169-1137G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678203"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3676,
          "endIntronDirection": "-",
          "endIntronOffset": 1139,
          "referenceAllele": "G",
          "start": 3676,
          "startIntronDirection": "-",
          "startIntronOffset": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "NM_001161662.2:c.3169-1140G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155134.1:n.3169-1140G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3658,
          "endIntronDirection": "-",
          "endIntronOffset": 1136,
          "referenceAllele": "G",
          "start": 3658,
          "startIntronDirection": "-",
          "startIntronOffset": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029435",
      "geneNCBI_id": 23286,
      "geneSymbol": "WWC1",
      "hgvs": [
        "NM_015238.3:c.3151-1137G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056053.1:n.3151-1137G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697481",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265293.9:c.3151-1137G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015238.3:c.3151-1137G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265293.4:n.3151-1137G>A"
          },
          "RefSeq": {
            "hgvs": "NP_056053.1:n.3151-1137G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}