{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA138228",
  "communityStandardTitle": [
    "NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3410469",
        "active": true,
        "id": "COSM3410469"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55546[alleleid]",
        "alleleId": 55546,
        "preferredName": "NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/46381",
        "RCV": [
          "RCV000039637",
          "RCV000434012",
          "RCV001157106"
        ],
        "variationId": 46381
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-89990447-G-A",
        "id": "5-89990447-G-A",
        "variant": "5:89990447 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.89990447G>A?assembly=hg19",
        "id": "chr5:g.89990447G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.90694630G>A?assembly=hg38",
        "id": "chr5:g.90694630G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201214794",
        "rs": 201214794
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-89990447-G-A?dataset=gnomad_r2_1",
        "id": "5-89990447-G-A",
        "variant": "5:89990447 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-90694630-G-A?dataset=gnomad_r3",
        "id": "5-90694630-G-A",
        "variant": "5:90694630 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-90694630-G-A?dataset=gnomad_r4",
        "id": "5-90694630-G-A",
        "variant": "5:90694630 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 90694630,
          "referenceAllele": "G",
          "start": 90694629
        }
      ],
      "hgvs": [
        "NC_000005.10:g.90694630G>A",
        "CM000667.2:g.90694630G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 89990447,
          "referenceAllele": "G",
          "start": 89990446
        }
      ],
      "hgvs": [
        "NC_000005.9:g.89990447G>A",
        "CM000667.1:g.89990447G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 90026203,
          "referenceAllele": "G",
          "start": 90026202
        }
      ],
      "hgvs": [
        "NC_000005.8:g.90026203G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 140831,
          "referenceAllele": "G",
          "start": 140830
        }
      ],
      "hgvs": [
        "NG_007083.1:g.140831G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000463"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 170287,
          "referenceAllele": "G",
          "start": 170286
        }
      ],
      "hgvs": [
        "NG_007083.2:g.170287G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616065"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7973,
          "referenceAllele": "G",
          "start": 7972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000405460.9:c.7874G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384582.2:p.Arg2625His",
        "hgvsWellDefined": "ENSP00000384582.2:p.Arg2625His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754126",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405460.9:c.7874G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032119.4:c.7874G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384582.2:p.Arg2625His"
          },
          "RefSeq": {
            "hgvs": "NP_115495.3:p.Arg2625His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 265,
          "endIntronDirection": "+",
          "endIntronOffset": 18421,
          "referenceAllele": "G",
          "start": 265,
          "startIntronDirection": "+",
          "startIntronOffset": 18420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000639431.1:c.265+18421G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491057.1:n.265+18421G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3333,
          "referenceAllele": "G",
          "start": 3332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000639473.1:n.3333G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1681,
          "referenceAllele": "G",
          "start": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000640012.1:c.1681G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765287"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1018,
          "referenceAllele": "G",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000640374.1:n.1018G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765466"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5773,
          "referenceAllele": "G",
          "start": 5772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000640403.1:c.5165G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492531.1:p.Arg1722His",
        "hgvsWellDefined": "ENSP00000492531.1:p.Arg1722His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765480"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2603,
          "referenceAllele": "G",
          "start": 2602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000640779.1:c.2603G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765671"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7970,
          "referenceAllele": "G",
          "start": 7969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000405460.6:c.7874G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384582.2:p.Arg2625His",
        "hgvsWellDefined": "ENSP00000384582.2:p.Arg2625His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 571,
          "referenceAllele": "G",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000509621.1:c.571G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA138229",
      "coordinates": [
        {
          "allele": "A",
          "end": 7970,
          "referenceAllele": "G",
          "start": 7969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NM_032119.3:c.7874G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115495.3:p.Arg2625His",
        "hgvsWellDefined": "NP_115495.3:p.Arg2625His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038850"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7887,
          "referenceAllele": "G",
          "start": 7886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NR_003149.1:n.7887G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS046177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7962,
          "referenceAllele": "G",
          "start": 7961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543675.1:c.7871G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541977.1:p.Arg2624His",
        "hgvsWellDefined": "XP_011541977.1:p.Arg2624His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7884,
          "referenceAllele": "G",
          "start": 7883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543676.1:c.7793G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541978.1:p.Arg2598His",
        "hgvsWellDefined": "XP_011541978.1:p.Arg2598His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5784,
          "referenceAllele": "G",
          "start": 5783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543677.1:c.5177G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541979.1:p.Arg1726His",
        "hgvsWellDefined": "XP_011541979.1:p.Arg1726His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110594"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7965,
          "referenceAllele": "G",
          "start": 7964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543678.1:c.7874G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541980.1:p.Arg2625His",
        "hgvsWellDefined": "XP_011541980.1:p.Arg2625His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110595"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7967,
          "referenceAllele": "G",
          "start": 7966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543679.1:c.7874G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541981.1:p.Arg2625His",
        "hgvsWellDefined": "XP_011541981.1:p.Arg2625His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110596"
    },
    {
      "@id": "http://reg.genome.network/allele/PA138229",
      "coordinates": [
        {
          "allele": "A",
          "end": 7973,
          "referenceAllele": "G",
          "start": 7972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NM_032119.4:c.7874G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115495.3:p.Arg2625His",
        "hgvsWellDefined": "NP_115495.3:p.Arg2625His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405460.9:c.7874G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032119.4:c.7874G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384582.2:p.Arg2625His"
          },
          "RefSeq": {
            "hgvs": "NP_115495.3:p.Arg2625His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7966,
          "referenceAllele": "G",
          "start": 7965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009963.2:c.7874G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865452.1:p.Arg2625His",
        "hgvsWellDefined": "XP_016865452.1:p.Arg2625His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7963,
          "referenceAllele": "G",
          "start": 7962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009964.2:c.7871G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865453.1:p.Arg2624His",
        "hgvsWellDefined": "XP_016865453.1:p.Arg2624His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564137"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7971,
          "referenceAllele": "G",
          "start": 7970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009965.1:c.7871G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865454.1:p.Arg2624His",
        "hgvsWellDefined": "XP_016865454.1:p.Arg2624His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564138"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7885,
          "referenceAllele": "G",
          "start": 7884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009966.2:c.7793G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865455.1:p.Arg2598His",
        "hgvsWellDefined": "XP_016865455.1:p.Arg2598His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564139"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7878,
          "referenceAllele": "G",
          "start": 7877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009967.1:c.7778G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865456.1:p.Arg2593His",
        "hgvsWellDefined": "XP_016865456.1:p.Arg2593His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564140"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7966,
          "referenceAllele": "G",
          "start": 7965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009968.2:c.7874G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865457.1:p.Arg2625His",
        "hgvsWellDefined": "XP_016865457.1:p.Arg2625His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7966,
          "referenceAllele": "G",
          "start": 7965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009969.2:c.7874G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865458.1:p.Arg2625His",
        "hgvsWellDefined": "XP_016865458.1:p.Arg2625His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7966,
          "referenceAllele": "G",
          "start": 7965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009970.2:c.7874G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865459.1:p.Arg2625His",
        "hgvsWellDefined": "XP_016865459.1:p.Arg2625His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564143"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7966,
          "referenceAllele": "G",
          "start": 7965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009971.2:c.7874G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865460.1:p.Arg2625His",
        "hgvsWellDefined": "XP_016865460.1:p.Arg2625His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1371,
          "referenceAllele": "G",
          "start": 1370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009972.1:c.992G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865461.1:p.Arg331His",
        "hgvsWellDefined": "XP_016865461.1:p.Arg331His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564145"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2603,
          "referenceAllele": "G",
          "start": 2602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009973.1:c.992G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865462.1:p.Arg331His",
        "hgvsWellDefined": "XP_016865462.1:p.Arg331His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7966,
          "referenceAllele": "G",
          "start": 7965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009974.2:c.7874G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865463.1:p.Arg2625His",
        "hgvsWellDefined": "XP_016865463.1:p.Arg2625His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564147"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7890,
          "referenceAllele": "G",
          "start": 7889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NR_003149.2:n.7890G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701829"
    }
  ],
  "type": "nucleotide"
}