{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA408013917",
  "communityStandardTitle": [
    "NM_003091.4(SNRPB):c.530C>G (p.Pro177Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1976011[alleleid]",
        "alleleId": 1976011,
        "preferredName": "NM_003091.4(SNRPB):c.530C>G (p.Pro177Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1909313",
        "RCV": [
          "RCV002600201"
        ],
        "variationId": 1909313
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.2443764G>C?assembly=hg19",
        "id": "chr20:g.2443764G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.2463118G>C?assembly=hg38",
        "id": "chr20:g.2463118G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/759220904",
        "rs": 759220904
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-2443764-G-C?dataset=gnomad_r2_1",
        "id": "20-2443764-G-C",
        "variant": "20:2443764 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-2463118-G-C?dataset=gnomad_r4",
        "id": "20-2463118-G-C",
        "variant": "20:2463118 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 2463118,
          "referenceAllele": "G",
          "start": 2463117
        }
      ],
      "hgvs": [
        "NC_000020.11:g.2463118G>C",
        "CM000682.2:g.2463118G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 2443764,
          "referenceAllele": "G",
          "start": 2443763
        }
      ],
      "hgvs": [
        "NC_000020.10:g.2443764G>C",
        "CM000682.1:g.2443764G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 2391764,
          "referenceAllele": "G",
          "start": 2391763
        }
      ],
      "hgvs": [
        "NC_000020.9:g.2391764G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12736,
          "referenceAllele": "C",
          "start": 12735
        }
      ],
      "hgvs": [
        "NG_042057.1:g.12736C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005913"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2933,
          "referenceAllele": "C",
          "start": 2932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011153",
      "geneNCBI_id": 6628,
      "geneSymbol": "SNRPB",
      "hgvs": [
        "ENST00000688423.1:n.2933C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831621"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1610,
          "referenceAllele": "C",
          "start": 1609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011153",
      "geneNCBI_id": 6628,
      "geneSymbol": "SNRPB",
      "hgvs": [
        "ENST00000688450.1:n.1610C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831634"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2414,
          "referenceAllele": "C",
          "start": 2413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011153",
      "geneNCBI_id": 6628,
      "geneSymbol": "SNRPB",
      "hgvs": [
        "ENST00000688775.1:n.2414C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831811"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2125,
          "referenceAllele": "C",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011153",
      "geneNCBI_id": 6628,
      "geneSymbol": "SNRPB",
      "hgvs": [
        "ENST00000689440.1:n.2125C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1779,
          "referenceAllele": "C",
          "start": 1778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011153",
      "geneNCBI_id": 6628,
      "geneSymbol": "SNRPB",
      "hgvs": [
        "ENST00000689611.1:n.1779C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832261"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 703,
          "referenceAllele": "C",
          "start": 702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011153",
      "geneNCBI_id": 6628,
      "geneSymbol": "SNRPB",
      "hgvs": [
        "ENST00000690623.1:n.703C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832795"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2416,
          "referenceAllele": "C",
          "start": 2415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011153",
      "geneNCBI_id": 6628,
      "geneSymbol": "SNRPB",
      "hgvs": [
        "ENST00000693393.1:n.2416C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 629,
          "referenceAllele": "C",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011153",
      "geneNCBI_id": 6628,
      "geneSymbol": "SNRPB",
      "hgvs": [
        "ENST00000381342.7:c.530C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370746.3:p.Pro177Arg",
        "hgvsWellDefined": "ENSP00000370746.3:p.Pro177Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752525",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381342.7:c.530C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003091.4:c.530C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370746.3:p.Pro177Arg"
          },
          "RefSeq": {
            "hgvs": "NP_003082.1:p.Pro177Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 659,
          "referenceAllele": "C",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011153",
      "geneNCBI_id": 6628,
      "geneSymbol": "SNRPB",
      "hgvs": [
        "ENST00000339610.10:c.530C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342305.7:p.Pro177Arg",
        "hgvsWellDefined": "ENSP00000342305.7:p.Pro177Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260911"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 693,
          "referenceAllele": "C",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011153",
      "geneNCBI_id": 6628,
      "geneSymbol": "SNRPB",
      "hgvs": [
        "ENST00000381342.6:c.530C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370746.2:p.Pro177Arg",
        "hgvsWellDefined": "ENSP00000370746.2:p.Pro177Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273325"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 693,
          "referenceAllele": "C",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011153",
      "geneNCBI_id": 6628,
      "geneSymbol": "SNRPB",
      "hgvs": [
        "ENST00000438552.6:c.530C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412566.2:p.Pro177Arg",
        "hgvsWellDefined": "ENSP00000412566.2:p.Pro177Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294996"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 696,
          "referenceAllele": "C",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011153",
      "geneNCBI_id": 6628,
      "geneSymbol": "SNRPB",
      "hgvs": [
        "ENST00000474384.2:c.*441C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474579.1:n.*441C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829412235",
      "coordinates": [
        {
          "allele": "G",
          "end": 693,
          "referenceAllele": "C",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011153",
      "geneNCBI_id": 6628,
      "geneSymbol": "SNRPB",
      "hgvs": [
        "NM_003091.3:c.530C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003082.1:p.Pro177Arg",
        "hgvsWellDefined": "NP_003082.1:p.Pro177Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028365"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580556619",
      "coordinates": [
        {
          "allele": "G",
          "end": 693,
          "referenceAllele": "C",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011153",
      "geneNCBI_id": 6628,
      "geneSymbol": "SNRPB",
      "hgvs": [
        "NM_198216.1:c.530C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937859.1:p.Pro177Arg",
        "hgvsWellDefined": "NP_937859.1:p.Pro177Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044474"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829412235",
      "coordinates": [
        {
          "allele": "G",
          "end": 629,
          "referenceAllele": "C",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011153",
      "geneNCBI_id": 6628,
      "geneSymbol": "SNRPB",
      "hgvs": [
        "NM_003091.4:c.530C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003082.1:p.Pro177Arg",
        "hgvsWellDefined": "NP_003082.1:p.Pro177Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695727",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381342.7:c.530C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003091.4:c.530C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370746.3:p.Pro177Arg"
          },
          "RefSeq": {
            "hgvs": "NP_003082.1:p.Pro177Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580556619",
      "coordinates": [
        {
          "allele": "G",
          "end": 629,
          "referenceAllele": "C",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011153",
      "geneNCBI_id": 6628,
      "geneSymbol": "SNRPB",
      "hgvs": [
        "NM_198216.2:c.530C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937859.1:p.Pro177Arg",
        "hgvsWellDefined": "NP_937859.1:p.Pro177Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701279"
    }
  ],
  "type": "nucleotide"
}