{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA127496",
  "communityStandardTitle": [
    "NM_198098.4(AQP1):c.113C>T (p.Pro38Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32886[alleleid]",
        "alleleId": 32886,
        "preferredName": "NM_198098.4(AQP1):c.113C>T (p.Pro38Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17847",
        "RCV": [
          "RCV000019425"
        ],
        "variationId": 17847
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-30951637-C-T",
        "id": "7-30951637-C-T",
        "variant": "7:30951637 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.30951637C>T?assembly=hg19",
        "id": "chr7:g.30951637C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.30912022C>T?assembly=hg38",
        "id": "chr7:g.30912022C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894004",
        "rs": 104894004
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-30951637-C-T?dataset=gnomad_r2_1",
        "id": "7-30951637-C-T",
        "variant": "7:30951637 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-30912022-C-T?dataset=gnomad_r3",
        "id": "7-30912022-C-T",
        "variant": "7:30912022 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-30912022-C-T?dataset=gnomad_r4",
        "id": "7-30912022-C-T",
        "variant": "7:30912022 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 30912022,
          "referenceAllele": "C",
          "start": 30912021
        }
      ],
      "hgvs": [
        "NC_000007.14:g.30912022C>T",
        "CM000669.2:g.30912022C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 30951637,
          "referenceAllele": "C",
          "start": 30951636
        }
      ],
      "hgvs": [
        "NC_000007.13:g.30951637C>T",
        "CM000669.1:g.30951637C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 30918162,
          "referenceAllele": "C",
          "start": 30918161
        }
      ],
      "hgvs": [
        "NC_000007.12:g.30918162C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 63629,
          "referenceAllele": "C",
          "start": 63628
        }
      ],
      "hgvs": [
        "NG_007475.2:g.63629C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000598"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 170,
          "referenceAllele": "C",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000633",
      "geneNCBI_id": 358,
      "geneSymbol": "AQP1",
      "hgvs": [
        "ENST00000311813.11:c.113C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311165.4:p.Pro38Leu",
        "hgvsWellDefined": "ENSP00000311165.4:p.Pro38Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311813.11:c.113C>T"
          },
          "RefSeq": {
            "hgvs": "NM_198098.4:c.113C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311165.4:p.Pro38Leu"
          },
          "RefSeq": {
            "hgvs": "NP_932766.1:p.Pro38Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 170,
          "referenceAllele": "C",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000633",
      "geneNCBI_id": 358,
      "geneSymbol": "AQP1",
      "hgvs": [
        "ENST00000652696.1:c.113C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498672.1:p.Pro38Leu",
        "hgvsWellDefined": "ENSP00000498672.1:p.Pro38Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772358"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 168,
          "referenceAllele": "C",
          "start": 167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000633",
      "geneNCBI_id": 358,
      "geneSymbol": "AQP1",
      "hgvs": [
        "ENST00000311813.8:c.113C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311165.4:p.Pro38Leu",
        "hgvsWellDefined": "ENSP00000311165.4:p.Pro38Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256584"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 651,
          "referenceAllele": "C",
          "start": 650
        }
      ],
      "hgvs": [
        "ENST00000509504.2:c.651C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340249"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127497",
      "coordinates": [
        {
          "allele": "T",
          "end": 223,
          "referenceAllele": "C",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000633",
      "geneNCBI_id": 358,
      "geneSymbol": "AQP1",
      "hgvs": [
        "NM_198098.2:c.113C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_932766.1:p.Pro38Leu",
        "hgvsWellDefined": "NP_932766.1:p.Pro38Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044427"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827274615",
      "coordinates": [
        {
          "allele": "T",
          "end": 329,
          "referenceAllele": "C",
          "start": 328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000633",
      "geneNCBI_id": 358,
      "geneSymbol": "AQP1",
      "hgvs": [
        "NM_001329872.1:c.113C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316801.1:p.Pro38Leu",
        "hgvsWellDefined": "NP_001316801.1:p.Pro38Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516419"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127497",
      "coordinates": [
        {
          "allele": "T",
          "end": 329,
          "referenceAllele": "C",
          "start": 328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000633",
      "geneNCBI_id": 358,
      "geneSymbol": "AQP1",
      "hgvs": [
        "NM_198098.3:c.113C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_932766.1:p.Pro38Leu",
        "hgvsWellDefined": "NP_932766.1:p.Pro38Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526942"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827274615",
      "coordinates": [
        {
          "allele": "T",
          "end": 170,
          "referenceAllele": "C",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000633",
      "geneNCBI_id": 358,
      "geneSymbol": "AQP1",
      "hgvs": [
        "NM_001329872.2:c.113C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316801.1:p.Pro38Leu",
        "hgvsWellDefined": "NP_001316801.1:p.Pro38Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127497",
      "coordinates": [
        {
          "allele": "T",
          "end": 170,
          "referenceAllele": "C",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000633",
      "geneNCBI_id": 358,
      "geneSymbol": "AQP1",
      "hgvs": [
        "NM_198098.4:c.113C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_932766.1:p.Pro38Leu",
        "hgvsWellDefined": "NP_932766.1:p.Pro38Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729876",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311813.11:c.113C>T"
          },
          "RefSeq": {
            "hgvs": "NM_198098.4:c.113C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311165.4:p.Pro38Leu"
          },
          "RefSeq": {
            "hgvs": "NP_932766.1:p.Pro38Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}