{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA182165",
  "communityStandardTitle": [
    "NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168546[alleleid]",
        "alleleId": 168546,
        "preferredName": "NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/158649",
        "RCV": [
          "RCV000146074",
          "RCV000155099",
          "RCV000725995",
          "RCV001152891",
          "RCV001255058"
        ],
        "variationId": 158649
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-89930946-T-G",
        "id": "5-89930946-T-G",
        "variant": "5:89930946 T / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.89930946T>G?assembly=hg19",
        "id": "chr5:g.89930946T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.90635129T>G?assembly=hg38",
        "id": "chr5:g.90635129T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/202064612",
        "rs": 202064612
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-89930946-T-G?dataset=gnomad_r2_1",
        "id": "5-89930946-T-G",
        "variant": "5:89930946 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-90635129-T-G?dataset=gnomad_r3",
        "id": "5-90635129-T-G",
        "variant": "5:90635129 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-90635129-T-G?dataset=gnomad_r4",
        "id": "5-90635129-T-G",
        "variant": "5:90635129 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 90635129,
          "referenceAllele": "T",
          "start": 90635128
        }
      ],
      "hgvs": [
        "NC_000005.10:g.90635129T>G",
        "CM000667.2:g.90635129T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 89930946,
          "referenceAllele": "T",
          "start": 89930945
        }
      ],
      "hgvs": [
        "NC_000005.9:g.89930946T>G",
        "CM000667.1:g.89930946T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 89966702,
          "referenceAllele": "T",
          "start": 89966701
        }
      ],
      "hgvs": [
        "NC_000005.8:g.89966702T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 81330,
          "referenceAllele": "T",
          "start": 81329
        }
      ],
      "hgvs": [
        "NG_007083.1:g.81330T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000463"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 110786,
          "referenceAllele": "T",
          "start": 110785
        }
      ],
      "hgvs": [
        "NG_007083.2:g.110786T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616065"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1954,
          "referenceAllele": "T",
          "start": 1953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000405460.9:c.1855T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384582.2:p.Leu619Val",
        "hgvsWellDefined": "ENSP00000384582.2:p.Leu619Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754126",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405460.9:c.1855T>G"
          },
          "RefSeq": {
            "hgvs": "NM_032119.4:c.1855T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384582.2:p.Leu619Val"
          },
          "RefSeq": {
            "hgvs": "NP_115495.3:p.Leu619Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 621,
          "referenceAllele": "T",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000504142.2:n.621T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1951,
          "referenceAllele": "T",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000405460.6:c.1855T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384582.2:p.Leu619Val",
        "hgvsWellDefined": "ENSP00000384582.2:p.Leu619Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280355"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 620,
          "referenceAllele": "T",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000504142.1:c.620T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336288"
    },
    {
      "@id": "http://reg.genome.network/allele/PA182166",
      "coordinates": [
        {
          "allele": "G",
          "end": 1951,
          "referenceAllele": "T",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NM_032119.3:c.1855T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_115495.3:p.Leu619Val",
        "hgvsWellDefined": "NP_115495.3:p.Leu619Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038850"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1951,
          "referenceAllele": "T",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NR_003149.1:n.1951T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS046177"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1946,
          "referenceAllele": "T",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543675.1:c.1855T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541977.1:p.Leu619Val",
        "hgvsWellDefined": "XP_011541977.1:p.Leu619Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110592"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1946,
          "referenceAllele": "T",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543676.1:c.1855T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541978.1:p.Leu619Val",
        "hgvsWellDefined": "XP_011541978.1:p.Leu619Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110593"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1946,
          "referenceAllele": "T",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543678.1:c.1855T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541980.1:p.Leu619Val",
        "hgvsWellDefined": "XP_011541980.1:p.Leu619Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110595"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1948,
          "referenceAllele": "T",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543679.1:c.1855T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541981.1:p.Leu619Val",
        "hgvsWellDefined": "XP_011541981.1:p.Leu619Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110596"
    },
    {
      "@id": "http://reg.genome.network/allele/PA182166",
      "coordinates": [
        {
          "allele": "G",
          "end": 1954,
          "referenceAllele": "T",
          "start": 1953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NM_032119.4:c.1855T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_115495.3:p.Leu619Val",
        "hgvsWellDefined": "NP_115495.3:p.Leu619Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405460.9:c.1855T>G"
          },
          "RefSeq": {
            "hgvs": "NM_032119.4:c.1855T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384582.2:p.Leu619Val"
          },
          "RefSeq": {
            "hgvs": "NP_115495.3:p.Leu619Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1947,
          "referenceAllele": "T",
          "start": 1946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009963.2:c.1855T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865452.1:p.Leu619Val",
        "hgvsWellDefined": "XP_016865452.1:p.Leu619Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1947,
          "referenceAllele": "T",
          "start": 1946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009964.2:c.1855T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865453.1:p.Leu619Val",
        "hgvsWellDefined": "XP_016865453.1:p.Leu619Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564137"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1952,
          "referenceAllele": "T",
          "start": 1951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009965.1:c.1852T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865454.1:p.Leu618Val",
        "hgvsWellDefined": "XP_016865454.1:p.Leu618Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564138"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1947,
          "referenceAllele": "T",
          "start": 1946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009966.2:c.1855T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865455.1:p.Leu619Val",
        "hgvsWellDefined": "XP_016865455.1:p.Leu619Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564139"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1859,
          "referenceAllele": "T",
          "start": 1858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009967.1:c.1759T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865456.1:p.Leu587Val",
        "hgvsWellDefined": "XP_016865456.1:p.Leu587Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564140"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1947,
          "referenceAllele": "T",
          "start": 1946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009968.2:c.1855T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865457.1:p.Leu619Val",
        "hgvsWellDefined": "XP_016865457.1:p.Leu619Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564141"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1947,
          "referenceAllele": "T",
          "start": 1946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009969.2:c.1855T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865458.1:p.Leu619Val",
        "hgvsWellDefined": "XP_016865458.1:p.Leu619Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564142"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1947,
          "referenceAllele": "T",
          "start": 1946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009970.2:c.1855T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865459.1:p.Leu619Val",
        "hgvsWellDefined": "XP_016865459.1:p.Leu619Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1947,
          "referenceAllele": "T",
          "start": 1946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009971.2:c.1855T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865460.1:p.Leu619Val",
        "hgvsWellDefined": "XP_016865460.1:p.Leu619Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1947,
          "referenceAllele": "T",
          "start": 1946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009974.2:c.1855T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865463.1:p.Leu619Val",
        "hgvsWellDefined": "XP_016865463.1:p.Leu619Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564147"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1954,
          "referenceAllele": "T",
          "start": 1953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NR_003149.2:n.1954T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701829"
    }
  ],
  "type": "nucleotide"
}