{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2970423",
  "communityStandardTitle": [
    "NM_005506.4(SCARB2):c.117+15G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1403485[alleleid]",
        "alleleId": 1403485,
        "preferredName": "NM_005506.4(SCARB2):c.117+15G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1447598",
        "RCV": [
          "RCV001979903"
        ],
        "variationId": 1447598
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-77134565-C-A",
        "id": "4-77134565-C-A",
        "variant": "4:77134565 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.77134565C>A?assembly=hg19",
        "id": "chr4:g.77134565C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.76213412C>A?assembly=hg38",
        "id": "chr4:g.76213412C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/762251387",
        "rs": 762251387
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-77134565-C-A?dataset=gnomad_r2_1",
        "id": "4-77134565-C-A",
        "variant": "4:77134565 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-76213412-C-A?dataset=gnomad_r3",
        "id": "4-76213412-C-A",
        "variant": "4:76213412 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-76213412-C-A?dataset=gnomad_r4",
        "id": "4-76213412-C-A",
        "variant": "4:76213412 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 76213412,
          "referenceAllele": "C",
          "start": 76213411
        }
      ],
      "hgvs": [
        "NC_000004.12:g.76213412C>A",
        "CM000666.2:g.76213412C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 77134565,
          "referenceAllele": "C",
          "start": 77134564
        }
      ],
      "hgvs": [
        "NC_000004.11:g.77134565C>A",
        "CM000666.1:g.77134565C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 77353589,
          "referenceAllele": "C",
          "start": 77353588
        }
      ],
      "hgvs": [
        "NC_000004.10:g.77353589C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5471,
          "referenceAllele": "G",
          "start": 5470
        }
      ],
      "hgvs": [
        "NG_012054.1:g.5471G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002140"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 398,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "ENST00000264896.8:c.117+15G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264896.2:n.117+15G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742743",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264896.8:c.117+15G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005506.4:c.117+15G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264896.2:n.117+15G>T"
          },
          "RefSeq": {
            "hgvs": "NP_005497.1:n.117+15G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 370,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "ENST00000502908.2:n.370+15G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 175,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "ENST00000509994.2:c.117+15G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420988.1:n.117+15G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 234,
          "endIntronDirection": "-",
          "endIntronOffset": 17547,
          "referenceAllele": "G",
          "start": 234,
          "startIntronDirection": "-",
          "startIntronOffset": 17548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "ENST00000638295.1:c.-357-17548G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492288.1:n.-357-17548G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764456"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 369,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 369,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "ENST00000638372.1:n.369+15G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764497"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 400,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 400,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "ENST00000638567.1:n.400+15G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764590"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 165,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "ENST00000638603.1:c.117+15G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491728.1:n.117+15G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 260,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 260,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "ENST00000638663.1:c.117+15G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491407.1:n.117+15G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 450,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "ENST00000638680.1:n.450+15G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764647"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 450,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "ENST00000639145.1:c.117+15G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492831.1:n.117+15G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764888"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 373,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 373,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "ENST00000639300.1:c.117+15G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492840.1:n.117+15G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 82,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 82,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "ENST00000639715.1:c.82+15G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 346,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 346,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "ENST00000639738.1:c.117+15G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491792.1:n.117+15G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "ENST00000640341.1:c.117+15G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492714.1:n.117+15G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 94,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 94,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "ENST00000640634.1:c.94+15G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765593"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 398,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "ENST00000640640.1:c.117+15G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492246.1:n.117+15G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765597"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 45,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 45,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "ENST00000640916.1:n.45+15G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765731"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 398,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "ENST00000640957.1:c.117+15G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492004.1:n.117+15G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 467,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 467,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "ENST00000264896.6:c.117+15G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264896.2:n.117+15G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251615"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 177,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 177,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "ENST00000452464.6:c.117+15G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399154.2:n.117+15G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301640"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 174,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 174,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "ENST00000509994.1:c.117+15G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420988.1:n.117+15G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 473,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 473,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "NM_001204255.1:c.117+15G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191184.1:n.117+15G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 473,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 473,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "NM_005506.3:c.117+15G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005497.1:n.117+15G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030597"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 398,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "NM_005506.4:c.117+15G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005497.1:n.117+15G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667001",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264896.8:c.117+15G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005506.4:c.117+15G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264896.2:n.117+15G>T"
          },
          "RefSeq": {
            "hgvs": "NP_005497.1:n.117+15G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "G",
          "start": 398,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001665",
      "geneNCBI_id": 950,
      "geneSymbol": "SCARB2",
      "hgvs": [
        "NM_001204255.2:c.117+15G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191184.1:n.117+15G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679803"
    }
  ],
  "type": "nucleotide"
}