{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2607114",
  "communityStandardTitle": [
    "NM_000539.3(RHO):c.341G>C (p.Gly114Ala)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-129247917-G-C",
        "id": "3-129247917-G-C",
        "variant": "3:129247917 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.129247917G>C?assembly=hg19",
        "id": "chr3:g.129247917G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.129529074G>C?assembly=hg38",
        "id": "chr3:g.129529074G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893788",
        "rs": 104893788
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-129247917-G-C?dataset=gnomad_r2_1",
        "id": "3-129247917-G-C",
        "variant": "3:129247917 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-129529074-G-C?dataset=gnomad_r4",
        "id": "3-129529074-G-C",
        "variant": "3:129529074 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 129529074,
          "referenceAllele": "G",
          "start": 129529073
        }
      ],
      "hgvs": [
        "NC_000003.12:g.129529074G>C",
        "CM000665.2:g.129529074G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 129247917,
          "referenceAllele": "G",
          "start": 129247916
        }
      ],
      "hgvs": [
        "NC_000003.11:g.129247917G>C",
        "CM000665.1:g.129247917G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 130730607,
          "referenceAllele": "G",
          "start": 130730606
        }
      ],
      "hgvs": [
        "NC_000003.10:g.130730607G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5436,
          "referenceAllele": "G",
          "start": 5435
        }
      ],
      "hgvs": [
        "NG_009115.1:g.5436G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001449"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 436,
          "referenceAllele": "G",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010012",
      "geneNCBI_id": 6010,
      "geneSymbol": "RHO",
      "hgvs": [
        "ENST00000296271.4:c.341G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296271.3:p.Gly114Ala",
        "hgvsWellDefined": "ENSP00000296271.3:p.Gly114Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296271.4:c.341G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000539.3:c.341G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296271.3:p.Gly114Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000530.1:p.Gly114Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 435,
          "referenceAllele": "G",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010012",
      "geneNCBI_id": 6010,
      "geneSymbol": "RHO",
      "hgvs": [
        "ENST00000296271.3:c.341G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296271.3:p.Gly114Ala",
        "hgvsWellDefined": "ENSP00000296271.3:p.Gly114Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254265"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068384527",
      "coordinates": [
        {
          "allele": "C",
          "end": 436,
          "referenceAllele": "G",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010012",
      "geneNCBI_id": 6010,
      "geneSymbol": "RHO",
      "hgvs": [
        "NM_000539.3:c.341G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000530.1:p.Gly114Ala",
        "hgvsWellDefined": "NP_000530.1:p.Gly114Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006597",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296271.4:c.341G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000539.3:c.341G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296271.3:p.Gly114Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000530.1:p.Gly114Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}