{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA138267",
  "communityStandardTitle": [
    "NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=41101",
        "active": true,
        "id": "COSM41101"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55569[alleleid]",
        "alleleId": 55569,
        "preferredName": "NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/46404",
        "RCV": [
          "RCV000039660",
          "RCV000512737",
          "RCV001002856",
          "RCV001839410",
          "RCV001157220",
          "RCV004527309"
        ],
        "variationId": 46404
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-90012539-G-A",
        "id": "5-90012539-G-A",
        "variant": "5:90012539 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.90012539G>A?assembly=hg19",
        "id": "chr5:g.90012539G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.90716722G>A?assembly=hg38",
        "id": "chr5:g.90716722G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200792658",
        "rs": 200792658
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-90012539-G-A?dataset=gnomad_r2_1",
        "id": "5-90012539-G-A",
        "variant": "5:90012539 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-90716722-G-A?dataset=gnomad_r3",
        "id": "5-90716722-G-A",
        "variant": "5:90716722 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-90716722-G-A?dataset=gnomad_r4",
        "id": "5-90716722-G-A",
        "variant": "5:90716722 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 90716722,
          "referenceAllele": "G",
          "start": 90716721
        }
      ],
      "hgvs": [
        "NC_000005.10:g.90716722G>A",
        "CM000667.2:g.90716722G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 90012539,
          "referenceAllele": "G",
          "start": 90012538
        }
      ],
      "hgvs": [
        "NC_000005.9:g.90012539G>A",
        "CM000667.1:g.90012539G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 90048295,
          "referenceAllele": "G",
          "start": 90048294
        }
      ],
      "hgvs": [
        "NC_000005.8:g.90048295G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 162923,
          "referenceAllele": "G",
          "start": 162922
        }
      ],
      "hgvs": [
        "NG_007083.1:g.162923G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000463"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 192379,
          "referenceAllele": "G",
          "start": 192378
        }
      ],
      "hgvs": [
        "NG_007083.2:g.192379G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616065"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9539,
          "referenceAllele": "G",
          "start": 9538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000405460.9:c.9440G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384582.2:p.Arg3147Gln",
        "hgvsWellDefined": "ENSP00000384582.2:p.Arg3147Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754126",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405460.9:c.9440G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032119.4:c.9440G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384582.2:p.Arg3147Gln"
          },
          "RefSeq": {
            "hgvs": "NP_115495.3:p.Arg3147Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 265,
          "endIntronDirection": "+",
          "endIntronOffset": 40513,
          "referenceAllele": "G",
          "start": 265,
          "startIntronDirection": "+",
          "startIntronOffset": 40512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000639431.1:c.265+40513G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491057.1:n.265+40513G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4899,
          "referenceAllele": "G",
          "start": 4898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000639473.1:n.4899G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2584,
          "referenceAllele": "G",
          "start": 2583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000640374.1:n.2584G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765466"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4169,
          "referenceAllele": "G",
          "start": 4168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000640779.1:c.4169G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765671"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9536,
          "referenceAllele": "G",
          "start": 9535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000405460.6:c.9440G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384582.2:p.Arg3147Gln",
        "hgvsWellDefined": "ENSP00000384582.2:p.Arg3147Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2137,
          "referenceAllele": "G",
          "start": 2136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000509621.1:c.2137G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA138268",
      "coordinates": [
        {
          "allele": "A",
          "end": 9536,
          "referenceAllele": "G",
          "start": 9535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NM_032119.3:c.9440G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115495.3:p.Arg3147Gln",
        "hgvsWellDefined": "NP_115495.3:p.Arg3147Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038850"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9453,
          "referenceAllele": "G",
          "start": 9452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NR_003149.1:n.9453G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS046177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9528,
          "referenceAllele": "G",
          "start": 9527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543675.1:c.9437G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541977.1:p.Arg3146Gln",
        "hgvsWellDefined": "XP_011541977.1:p.Arg3146Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9450,
          "referenceAllele": "G",
          "start": 9449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543676.1:c.9359G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541978.1:p.Arg3120Gln",
        "hgvsWellDefined": "XP_011541978.1:p.Arg3120Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7350,
          "referenceAllele": "G",
          "start": 7349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543677.1:c.6743G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541979.1:p.Arg2248Gln",
        "hgvsWellDefined": "XP_011541979.1:p.Arg2248Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110594"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9531,
          "referenceAllele": "G",
          "start": 9530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543678.1:c.9440G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541980.1:p.Arg3147Gln",
        "hgvsWellDefined": "XP_011541980.1:p.Arg3147Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110595"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9533,
          "referenceAllele": "G",
          "start": 9532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543679.1:c.9440G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541981.1:p.Arg3147Gln",
        "hgvsWellDefined": "XP_011541981.1:p.Arg3147Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110596"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 271,
          "endIntronDirection": "-",
          "endIntronOffset": 912,
          "referenceAllele": "C",
          "start": 271,
          "startIntronDirection": "-",
          "startIntronOffset": 913
        }
      ],
      "hgvs": [
        "XR_948560.1:n.272-913C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142138"
    },
    {
      "@id": "http://reg.genome.network/allele/PA138268",
      "coordinates": [
        {
          "allele": "A",
          "end": 9539,
          "referenceAllele": "G",
          "start": 9538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NM_032119.4:c.9440G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115495.3:p.Arg3147Gln",
        "hgvsWellDefined": "NP_115495.3:p.Arg3147Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405460.9:c.9440G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032119.4:c.9440G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384582.2:p.Arg3147Gln"
          },
          "RefSeq": {
            "hgvs": "NP_115495.3:p.Arg3147Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9553,
          "referenceAllele": "G",
          "start": 9552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009963.2:c.9461G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865452.1:p.Arg3154Gln",
        "hgvsWellDefined": "XP_016865452.1:p.Arg3154Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9550,
          "referenceAllele": "G",
          "start": 9549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009964.2:c.9458G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865453.1:p.Arg3153Gln",
        "hgvsWellDefined": "XP_016865453.1:p.Arg3153Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564137"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9558,
          "referenceAllele": "G",
          "start": 9557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009965.1:c.9458G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865454.1:p.Arg3153Gln",
        "hgvsWellDefined": "XP_016865454.1:p.Arg3153Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564138"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9472,
          "referenceAllele": "G",
          "start": 9471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009966.2:c.9380G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865455.1:p.Arg3127Gln",
        "hgvsWellDefined": "XP_016865455.1:p.Arg3127Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564139"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9465,
          "referenceAllele": "G",
          "start": 9464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009967.1:c.9365G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865456.1:p.Arg3122Gln",
        "hgvsWellDefined": "XP_016865456.1:p.Arg3122Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564140"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9553,
          "referenceAllele": "G",
          "start": 9552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009968.2:c.9461G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865457.1:p.Arg3154Gln",
        "hgvsWellDefined": "XP_016865457.1:p.Arg3154Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9553,
          "referenceAllele": "G",
          "start": 9552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009969.2:c.9461G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865458.1:p.Arg3154Gln",
        "hgvsWellDefined": "XP_016865458.1:p.Arg3154Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9553,
          "referenceAllele": "G",
          "start": 9552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009970.2:c.9461G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865459.1:p.Arg3154Gln",
        "hgvsWellDefined": "XP_016865459.1:p.Arg3154Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564143"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9553,
          "referenceAllele": "G",
          "start": 9552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009971.2:c.9461G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865460.1:p.Arg3154Gln",
        "hgvsWellDefined": "XP_016865460.1:p.Arg3154Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2958,
          "referenceAllele": "G",
          "start": 2957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009972.1:c.2579G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865461.1:p.Arg860Gln",
        "hgvsWellDefined": "XP_016865461.1:p.Arg860Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564145"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4169,
          "referenceAllele": "G",
          "start": 4168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009973.1:c.2558G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865462.1:p.Arg853Gln",
        "hgvsWellDefined": "XP_016865462.1:p.Arg853Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9553,
          "referenceAllele": "G",
          "start": 9552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009974.2:c.9461G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865463.1:p.Arg3154Gln",
        "hgvsWellDefined": "XP_016865463.1:p.Arg3154Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2522,
          "endIntronDirection": "-",
          "endIntronOffset": 912,
          "referenceAllele": "C",
          "start": 2522,
          "startIntronDirection": "-",
          "startIntronOffset": 913
        }
      ],
      "hgvs": [
        "XR_001742802.1:n.2523-913C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9456,
          "referenceAllele": "G",
          "start": 9455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NR_003149.2:n.9456G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701829"
    }
  ],
  "type": "nucleotide"
}