{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA384772289",
  "communityStandardTitle": [
    "NM_000486.6(AQP2):c.299G>C (p.Gly100Ala)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.50344912G>C?assembly=hg19",
        "id": "chr12:g.50344912G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49951129G>C?assembly=hg38",
        "id": "chr12:g.49951129G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894338",
        "rs": 104894338
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49951129-G-C?dataset=gnomad_r4",
        "id": "12-49951129-G-C",
        "variant": "12:49951129 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 49951129,
          "referenceAllele": "G",
          "start": 49951128
        }
      ],
      "hgvs": [
        "NC_000012.12:g.49951129G>C",
        "CM000674.2:g.49951129G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 50344912,
          "referenceAllele": "G",
          "start": 50344911
        }
      ],
      "hgvs": [
        "NC_000012.11:g.50344912G>C",
        "CM000674.1:g.50344912G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 48631179,
          "referenceAllele": "G",
          "start": 48631178
        }
      ],
      "hgvs": [
        "NC_000012.10:g.48631179G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5389,
          "referenceAllele": "G",
          "start": 5388
        }
      ],
      "hgvs": [
        "NG_008913.1:g.5389G>C",
        "LRG_717:g.5389G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001292"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 393,
          "referenceAllele": "G",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000634",
      "geneNCBI_id": 359,
      "geneSymbol": "AQP2",
      "hgvs": [
        "ENST00000199280.4:c.299G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000199280.3:p.Gly100Ala",
        "hgvsWellDefined": "ENSP00000199280.3:p.Gly100Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740129",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000199280.4:c.299G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000486.6:c.299G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000199280.3:p.Gly100Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000477.1:p.Gly100Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 384,
          "referenceAllele": "G",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000634",
      "geneNCBI_id": 359,
      "geneSymbol": "AQP2",
      "hgvs": [
        "ENST00000199280.3:c.299G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000199280.3:p.Gly100Ala",
        "hgvsWellDefined": "ENSP00000199280.3:p.Gly100Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247757"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 376,
          "referenceAllele": "G",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000634",
      "geneNCBI_id": 359,
      "geneSymbol": "AQP2",
      "hgvs": [
        "ENST00000550862.1:c.299G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450022.1:p.Gly100Ala",
        "hgvsWellDefined": "ENSP00000450022.1:p.Gly100Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368319"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000634",
      "geneNCBI_id": 359,
      "geneSymbol": "AQP2",
      "hgvs": [
        "ENST00000551526.5:c.299G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447148.1:p.Gly100Ala",
        "hgvsWellDefined": "ENSP00000447148.1:p.Gly100Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368712"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079285149",
      "coordinates": [
        {
          "allele": "C",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000634",
      "geneNCBI_id": 359,
      "geneSymbol": "AQP2",
      "hgvs": [
        "NM_000486.5:c.299G>C",
        "LRG_717t1:c.299G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000477.1:p.Gly100Ala",
        "hgvsWellDefined": "NP_000477.1:p.Gly100Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006540"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079285149",
      "coordinates": [
        {
          "allele": "C",
          "end": 393,
          "referenceAllele": "G",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000634",
      "geneNCBI_id": 359,
      "geneSymbol": "AQP2",
      "hgvs": [
        "NM_000486.6:c.299G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000477.1:p.Gly100Ala",
        "hgvsWellDefined": "NP_000477.1:p.Gly100Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674865",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000199280.4:c.299G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000486.6:c.299G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000199280.3:p.Gly100Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000477.1:p.Gly100Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}