{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA344456200",
  "communityStandardTitle": [
    "NM_000707.5(AVPR1B):c.195G>T (p.Lys65Asn)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.206224635G>T?assembly=hg19",
        "id": "chr1:g.206224635G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.206116696C>A?assembly=hg38",
        "id": "chr1:g.206116696C>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 206116696,
          "referenceAllele": "C",
          "start": 206116695
        }
      ],
      "hgvs": [
        "NC_000001.11:g.206116696C>A",
        "CM000663.2:g.206116696C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 206224635,
          "referenceAllele": "G",
          "start": 206224634
        }
      ],
      "hgvs": [
        "NC_000001.10:g.206224635G>T",
        "CM000663.1:g.206224635G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 204391258,
          "referenceAllele": "G",
          "start": 204391257
        }
      ],
      "hgvs": [
        "NC_000001.9:g.204391258G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "referenceAllele": "G",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000896",
      "geneNCBI_id": 553,
      "geneSymbol": "AVPR1B",
      "hgvs": [
        "ENST00000367126.5:c.195G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356094.4:p.Lys65Asn",
        "hgvsWellDefined": "ENSP00000356094.4:p.Lys65Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749936",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367126.5:c.195G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000707.5:c.195G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356094.4:p.Lys65Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000698.1:p.Lys65Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 660,
          "referenceAllele": "G",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000896",
      "geneNCBI_id": 553,
      "geneSymbol": "AVPR1B",
      "hgvs": [
        "ENST00000367126.4:c.195G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356094.4:p.Lys65Asn",
        "hgvsWellDefined": "ENSP00000356094.4:p.Lys65Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 36,
          "endIntronDirection": "+",
          "endIntronOffset": 968,
          "referenceAllele": "G",
          "start": 36,
          "startIntronDirection": "+",
          "startIntronOffset": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000896",
      "geneNCBI_id": 553,
      "geneSymbol": "AVPR1B",
      "hgvs": [
        "ENST00000612906.1:n.36+968G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS401516"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063890819",
      "coordinates": [
        {
          "allele": "T",
          "end": 353,
          "referenceAllele": "G",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000896",
      "geneNCBI_id": 553,
      "geneSymbol": "AVPR1B",
      "hgvs": [
        "NM_000707.3:c.195G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000698.1:p.Lys65Asn",
        "hgvsWellDefined": "NP_000698.1:p.Lys65Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063890819",
      "coordinates": [
        {
          "allele": "T",
          "end": 355,
          "referenceAllele": "G",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000896",
      "geneNCBI_id": 553,
      "geneSymbol": "AVPR1B",
      "hgvs": [
        "NM_000707.4:c.195G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000698.1:p.Lys65Asn",
        "hgvsWellDefined": "NP_000698.1:p.Lys65Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510834"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063890819",
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "referenceAllele": "G",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000896",
      "geneNCBI_id": 553,
      "geneSymbol": "AVPR1B",
      "hgvs": [
        "NM_000707.5:c.195G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000698.1:p.Lys65Asn",
        "hgvsWellDefined": "NP_000698.1:p.Lys65Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662544",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367126.5:c.195G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000707.5:c.195G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356094.4:p.Lys65Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000698.1:p.Lys65Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}