{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3898787",
  "communityStandardTitle": [
    "NM_000863.3(HTR1B):c.662C>A (p.Thr221Asn)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-78172459-G-T",
        "id": "6-78172459-G-T",
        "variant": "6:78172459 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.78172459G>T?assembly=hg19",
        "id": "chr6:g.78172459G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.77462742G>T?assembly=hg38",
        "id": "chr6:g.77462742G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/770106646",
        "rs": 770106646
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-78172459-G-T?dataset=gnomad_r2_1",
        "id": "6-78172459-G-T",
        "variant": "6:78172459 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-77462742-G-T?dataset=gnomad_r4",
        "id": "6-77462742-G-T",
        "variant": "6:77462742 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 77462742,
          "referenceAllele": "G",
          "start": 77462741
        }
      ],
      "hgvs": [
        "NC_000006.12:g.77462742G>T",
        "CM000668.2:g.77462742G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 78172459,
          "referenceAllele": "G",
          "start": 78172458
        }
      ],
      "hgvs": [
        "NC_000006.11:g.78172459G>T",
        "CM000668.1:g.78172459G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 78229178,
          "referenceAllele": "G",
          "start": 78229177
        }
      ],
      "hgvs": [
        "NC_000006.10:g.78229178G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005287",
      "geneNCBI_id": 3351,
      "geneSymbol": "HTR1B",
      "hgvs": [
        "ENST00000369947.5:c.662C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358963.3:p.Thr221Asn",
        "hgvsWellDefined": "ENSP00000358963.3:p.Thr221Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750508",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369947.5:c.662C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000863.3:c.662C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358963.3:p.Thr221Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000854.1:p.Thr221Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005287",
      "geneNCBI_id": 3351,
      "geneSymbol": "HTR1B",
      "hgvs": [
        "ENST00000369947.3:c.662C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358963.2:p.Thr221Asn",
        "hgvsWellDefined": "ENSP00000358963.2:p.Thr221Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267784"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072491733",
      "coordinates": [
        {
          "allele": "A",
          "end": 662,
          "referenceAllele": "C",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005287",
      "geneNCBI_id": 3351,
      "geneSymbol": "HTR1B",
      "hgvs": [
        "NM_000863.1:c.662C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000854.1:p.Thr221Asn",
        "hgvsWellDefined": "NP_000854.1:p.Thr221Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246651"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072491733",
      "coordinates": [
        {
          "allele": "A",
          "end": 1281,
          "referenceAllele": "C",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005287",
      "geneNCBI_id": 3351,
      "geneSymbol": "HTR1B",
      "hgvs": [
        "NM_000863.2:c.662C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000854.1:p.Thr221Asn",
        "hgvsWellDefined": "NP_000854.1:p.Thr221Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006891"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 544,
          "endIntronDirection": "-",
          "endIntronOffset": 11783,
          "referenceAllele": "G",
          "start": 544,
          "startIntronDirection": "-",
          "startIntronOffset": 11784
        }
      ],
      "hgvs": [
        "XR_942706.1:n.545-11784G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 544,
          "endIntronDirection": "-",
          "endIntronOffset": 11783,
          "referenceAllele": "G",
          "start": 544,
          "startIntronDirection": "-",
          "startIntronOffset": 11784
        }
      ],
      "hgvs": [
        "XR_942707.1:n.545-11784G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136859"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 544,
          "endIntronDirection": "-",
          "endIntronOffset": 11783,
          "referenceAllele": "G",
          "start": 544,
          "startIntronDirection": "-",
          "startIntronOffset": 11784
        }
      ],
      "hgvs": [
        "XR_942708.1:n.545-11784G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 544,
          "endIntronDirection": "-",
          "endIntronOffset": 11783,
          "referenceAllele": "G",
          "start": 544,
          "startIntronDirection": "-",
          "startIntronOffset": 11784
        }
      ],
      "hgvs": [
        "XR_942709.1:n.545-11784G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136861"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 544,
          "endIntronDirection": "-",
          "endIntronOffset": 11783,
          "referenceAllele": "G",
          "start": 544,
          "startIntronDirection": "-",
          "startIntronOffset": 11784
        }
      ],
      "hgvs": [
        "XR_942708.2:n.545-11784G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS613216"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072491733",
      "coordinates": [
        {
          "allele": "A",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005287",
      "geneNCBI_id": 3351,
      "geneSymbol": "HTR1B",
      "hgvs": [
        "NM_000863.3:c.662C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000854.1:p.Thr221Asn",
        "hgvsWellDefined": "NP_000854.1:p.Thr221Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674972",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369947.5:c.662C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000863.3:c.662C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358963.3:p.Thr221Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000854.1:p.Thr221Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}