{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14421152",
  "communityStandardTitle": [
    "NM_012448.4(STAT5B):c.376-307C>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1212542[alleleid]",
        "alleleId": 1212542,
        "preferredName": "NM_012448.4(STAT5B):c.376-307C>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1220855",
        "RCV": [
          "RCV001595417"
        ],
        "variationId": 1220855
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.40375881G>T?assembly=hg19",
        "id": "chr17:g.40375881G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42223863G>T?assembly=hg38",
        "id": "chr17:g.42223863G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/9900213",
        "rs": 9900213
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-40375881-G-T?dataset=gnomad_r2_1",
        "id": "17-40375881-G-T",
        "variant": "17:40375881 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-42223863-G-T?dataset=gnomad_r3",
        "id": "17-42223863-G-T",
        "variant": "17:42223863 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-42223863-G-T?dataset=gnomad_r4",
        "id": "17-42223863-G-T",
        "variant": "17:42223863 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 42223863,
          "referenceAllele": "G",
          "start": 42223862
        }
      ],
      "hgvs": [
        "NC_000017.11:g.42223863G>T",
        "CM000679.2:g.42223863G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 40375881,
          "referenceAllele": "G",
          "start": 40375880
        }
      ],
      "hgvs": [
        "NC_000017.10:g.40375881G>T",
        "CM000679.1:g.40375881G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 37629407,
          "referenceAllele": "G",
          "start": 37629406
        }
      ],
      "hgvs": [
        "NC_000017.9:g.37629407G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 57544,
          "referenceAllele": "C",
          "start": 57543
        }
      ],
      "hgvs": [
        "NG_007271.1:g.57544C>A",
        "LRG_192:g.57544C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000519"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 465,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 465,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000415845.2:c.376-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398379.2:n.376-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904722"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 549,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 549,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000698774.1:n.550-307C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 685,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000698775.1:c.*382-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513922.1:n.*382-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 930,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 930,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000698776.1:c.376-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513923.1:n.376-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 559,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 559,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000698777.1:c.376-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513924.1:n.376-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 535,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 535,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000698778.1:c.376-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513925.1:n.376-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909731"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 535,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 535,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000698779.1:c.376-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513926.1:n.376-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909732"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 218,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 218,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000698802.1:c.219-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513944.1:n.219-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909752"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 462,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 462,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000698803.1:c.*126-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513945.1:n.*126-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1410,
          "referenceAllele": "C",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000698804.1:n.1410C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909754"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1412,
          "referenceAllele": "C",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000698805.1:n.1412C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909755"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 352,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 352,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000698806.1:c.*90-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513946.1:n.*90-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1445,
          "referenceAllele": "C",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000698807.1:n.1445C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 535,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 535,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000698808.1:c.376-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513947.1:n.376-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 535,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 535,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000698809.1:c.376-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513948.1:n.376-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909759"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 523,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 523,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000698810.1:c.*126-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513949.1:n.*126-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 512,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 512,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000698812.1:c.*382-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513950.1:n.*382-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909762"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 535,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 535,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000698813.1:c.376-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513951.1:n.376-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909763"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 535,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 535,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000698814.1:c.376-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513952.1:n.376-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909764"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 535,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 535,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000698815.1:c.376-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513953.1:n.376-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 463,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 463,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000698816.1:n.464-307C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1303,
          "referenceAllele": "C",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000698817.1:n.1303C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 529,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 529,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000293328.8:c.376-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293328.3:n.376-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744159",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000293328.8:c.376-307C>A"
          },
          "RefSeq": {
            "hgvs": "NM_012448.4:c.376-307C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000293328.3:n.376-307C>A"
          },
          "RefSeq": {
            "hgvs": "NP_036580.2:n.376-307C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 544,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 544,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000293328.7:c.376-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293328.3:n.376-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 465,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 465,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000415845.1:c.376-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398379.1:n.376-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 544,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 544,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000468312.1:n.545-307C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311253"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 544,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 544,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "NM_012448.3:c.376-307C>A",
        "LRG_192t1:c.376-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036580.2:n.376-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 179,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 179,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "XM_005257625.2:c.94-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257682.1:n.94-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 598,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 598,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "XM_005257626.3:c.376-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257683.1:n.376-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061773"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 598,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 598,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "XM_005257626.4:c.376-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257683.1:n.376-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534692"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 363,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 363,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "XM_017024977.1:c.94-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880466.1:n.94-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575407"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1036,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 1036,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "XM_024450897.1:c.376-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306665.1:n.376-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584426"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 612,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 612,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "XM_024450898.1:c.376-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306666.1:n.376-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584427"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 529,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 529,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "NM_012448.4:c.376-307C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036580.2:n.376-307C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697075",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000293328.8:c.376-307C>A"
          },
          "RefSeq": {
            "hgvs": "NM_012448.4:c.376-307C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000293328.3:n.376-307C>A"
          },
          "RefSeq": {
            "hgvs": "NP_036580.2:n.376-307C>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}