{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA119977",
  "communityStandardTitle": [
    "NM_002181.4(IHH):c.137C>T (p.Pro46Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23909[alleleid]",
        "alleleId": 23909,
        "preferredName": "NM_002181.4(IHH):c.137C>T (p.Pro46Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8870",
        "RCV": [
          "RCV000009420"
        ],
        "variationId": 8870
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219925053G>A?assembly=hg19",
        "id": "chr2:g.219925053G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219060331G>A?assembly=hg38",
        "id": "chr2:g.219060331G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121917856",
        "rs": 121917856
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-219060331-G-A?dataset=gnomad_r4",
        "id": "2-219060331-G-A",
        "variant": "2:219060331 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 219060331,
          "referenceAllele": "G",
          "start": 219060330
        }
      ],
      "hgvs": [
        "NC_000002.12:g.219060331G>A",
        "CM000664.2:g.219060331G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 219925053,
          "referenceAllele": "G",
          "start": 219925052
        }
      ],
      "hgvs": [
        "NC_000002.11:g.219925053G>A",
        "CM000664.1:g.219925053G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 219633297,
          "referenceAllele": "G",
          "start": 219633296
        }
      ],
      "hgvs": [
        "NC_000002.10:g.219633297G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5186,
          "referenceAllele": "C",
          "start": 5185
        }
      ],
      "hgvs": [
        "NG_016741.1:g.5186C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003266"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 591,
          "referenceAllele": "C",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005956",
      "geneNCBI_id": 3549,
      "geneSymbol": "IHH",
      "hgvs": [
        "ENST00000295731.7:c.137C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295731.5:p.Pro46Leu",
        "hgvsWellDefined": "ENSP00000295731.5:p.Pro46Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295731.7:c.137C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002181.4:c.137C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295731.5:p.Pro46Leu"
          },
          "RefSeq": {
            "hgvs": "NP_002172.2:p.Pro46Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 137,
          "referenceAllele": "C",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005956",
      "geneNCBI_id": 3549,
      "geneSymbol": "IHH",
      "hgvs": [
        "ENST00000295731.6:c.137C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295731.5:p.Pro46Leu",
        "hgvsWellDefined": "ENSP00000295731.5:p.Pro46Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254144"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103614",
      "coordinates": [
        {
          "allele": "T",
          "end": 186,
          "referenceAllele": "C",
          "start": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005956",
      "geneNCBI_id": 3549,
      "geneSymbol": "IHH",
      "hgvs": [
        "NM_002181.3:c.137C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002172.2:p.Pro46Leu",
        "hgvsWellDefined": "NP_002172.2:p.Pro46Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027501"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103614",
      "coordinates": [
        {
          "allele": "T",
          "end": 591,
          "referenceAllele": "C",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005956",
      "geneNCBI_id": 3549,
      "geneSymbol": "IHH",
      "hgvs": [
        "NM_002181.4:c.137C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002172.2:p.Pro46Leu",
        "hgvsWellDefined": "NP_002172.2:p.Pro46Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665390",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295731.7:c.137C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002181.4:c.137C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295731.5:p.Pro46Leu"
          },
          "RefSeq": {
            "hgvs": "NP_002172.2:p.Pro46Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}