{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA117392",
  "communityStandardTitle": [
    "NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20343[alleleid]",
        "alleleId": 20343,
        "preferredName": "NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5304",
        "RCV": [
          "RCV000005627",
          "RCV000397011",
          "RCV000730698",
          "RCV001532954"
        ],
        "variationId": 5304
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-16843666-C-T",
        "id": "17-16843666-C-T",
        "variant": "17:16843666 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.16843666C>T?assembly=hg19",
        "id": "chr17:g.16843666C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.16940352C>T?assembly=hg38",
        "id": "chr17:g.16940352C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894649",
        "rs": 104894649
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-16843666-C-T?dataset=gnomad_r2_1",
        "id": "17-16843666-C-T",
        "variant": "17:16843666 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-16940352-C-T?dataset=gnomad_r3",
        "id": "17-16940352-C-T",
        "variant": "17:16940352 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-16940352-C-T?dataset=gnomad_r4",
        "id": "17-16940352-C-T",
        "variant": "17:16940352 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 16940352,
          "referenceAllele": "C",
          "start": 16940351
        }
      ],
      "hgvs": [
        "NC_000017.11:g.16940352C>T",
        "CM000679.2:g.16940352C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 16843666,
          "referenceAllele": "C",
          "start": 16843665
        }
      ],
      "hgvs": [
        "NC_000017.10:g.16843666C>T",
        "CM000679.1:g.16843666C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 16784391,
          "referenceAllele": "C",
          "start": 16784390
        }
      ],
      "hgvs": [
        "NC_000017.9:g.16784391C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 36737,
          "referenceAllele": "G",
          "start": 36736
        }
      ],
      "hgvs": [
        "NG_007281.1:g.36737G>A",
        "LRG_120:g.36737G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000529"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 648,
          "referenceAllele": "G",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018153",
      "geneNCBI_id": 23495,
      "geneSymbol": "TNFRSF13B",
      "hgvs": [
        "ENST00000261652.7:c.605G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261652.2:p.Arg202His",
        "hgvsWellDefined": "ENSP00000261652.2:p.Arg202His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742180",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261652.7:c.605G>A"
          },
          "RefSeq": {
            "hgvs": "NM_012452.3:c.605G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261652.2:p.Arg202His"
          },
          "RefSeq": {
            "hgvs": "NP_036584.1:p.Arg202His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 618,
          "referenceAllele": "G",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018153",
      "geneNCBI_id": 23495,
      "geneSymbol": "TNFRSF13B",
      "hgvs": [
        "ENST00000261652.6:c.605G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261652.2:p.Arg202His",
        "hgvsWellDefined": "ENSP00000261652.2:p.Arg202His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250804"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 711,
          "referenceAllele": "G",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018153",
      "geneNCBI_id": 23495,
      "geneSymbol": "TNFRSF13B",
      "hgvs": [
        "ENST00000579009.1:n.711G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385641"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 488,
          "endIntronDirection": "-",
          "endIntronOffset": 7175,
          "referenceAllele": "G",
          "start": 488,
          "startIntronDirection": "-",
          "startIntronOffset": 7176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018153",
      "geneNCBI_id": 23495,
      "geneSymbol": "TNFRSF13B",
      "hgvs": [
        "ENST00000579315.5:c.446-7176G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464069.1:n.446-7176G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385789"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 349,
          "endIntronDirection": "-",
          "endIntronOffset": 7414,
          "referenceAllele": "G",
          "start": 349,
          "startIntronDirection": "-",
          "startIntronOffset": 7415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018153",
      "geneNCBI_id": 23495,
      "geneSymbol": "TNFRSF13B",
      "hgvs": [
        "ENST00000582931.5:n.350-7415G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387503"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 479,
          "referenceAllele": "G",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018153",
      "geneNCBI_id": 23495,
      "geneSymbol": "TNFRSF13B",
      "hgvs": [
        "ENST00000583789.1:c.467G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462952.1:p.Arg156His",
        "hgvsWellDefined": "ENSP00000462952.1:p.Arg156His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387916"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 479,
          "referenceAllele": "G",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018153",
      "geneNCBI_id": 23495,
      "geneSymbol": "TNFRSF13B",
      "hgvs": [
        "ENST00000584950.5:c.467G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463582.1:p.Arg156His",
        "hgvsWellDefined": "ENSP00000463582.1:p.Arg156His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092490",
      "coordinates": [
        {
          "allele": "A",
          "end": 618,
          "referenceAllele": "G",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018153",
      "geneNCBI_id": 23495,
      "geneSymbol": "TNFRSF13B",
      "hgvs": [
        "NM_012452.2:c.605G>A",
        "LRG_120t1:c.605G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036584.1:p.Arg202His",
        "hgvsWellDefined": "NP_036584.1:p.Arg202His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032602"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092490",
      "coordinates": [
        {
          "allele": "A",
          "end": 648,
          "referenceAllele": "G",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018153",
      "geneNCBI_id": 23495,
      "geneSymbol": "TNFRSF13B",
      "hgvs": [
        "NM_012452.3:c.605G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036584.1:p.Arg202His",
        "hgvsWellDefined": "NP_036584.1:p.Arg202His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261652.7:c.605G>A"
          },
          "RefSeq": {
            "hgvs": "NM_012452.3:c.605G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261652.2:p.Arg202His"
          },
          "RefSeq": {
            "hgvs": "NP_036584.1:p.Arg202His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}