{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA042734",
  "communityStandardTitle": [
    "NM_004612.4(TGFBR1):c.680A>G (p.Glu227Gly)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-101900246-A-G",
        "id": "9-101900246-A-G",
        "variant": "9:101900246 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.101900246A>G?assembly=hg19",
        "id": "chr9:g.101900246A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.99137964A>G?assembly=hg38",
        "id": "chr9:g.99137964A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/772339721",
        "rs": 772339721
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-101900246-A-G?dataset=gnomad_r2_1",
        "id": "9-101900246-A-G",
        "variant": "9:101900246 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-99137964-A-G?dataset=gnomad_r4",
        "id": "9-99137964-A-G",
        "variant": "9:99137964 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 99137964,
          "referenceAllele": "A",
          "start": 99137963
        }
      ],
      "hgvs": [
        "NC_000009.12:g.99137964A>G",
        "CM000671.2:g.99137964A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 101900246,
          "referenceAllele": "A",
          "start": 101900245
        }
      ],
      "hgvs": [
        "NC_000009.11:g.101900246A>G",
        "CM000671.1:g.101900246A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 100940067,
          "referenceAllele": "A",
          "start": 100940066
        }
      ],
      "hgvs": [
        "NC_000009.10:g.100940067A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 37835,
          "referenceAllele": "A",
          "start": 37834
        }
      ],
      "hgvs": [
        "NG_007461.1:g.37835A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000587"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000547314.6:c.473A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449934.2:p.Glu158Gly",
        "hgvsWellDefined": "ENSP00000449934.2:p.Glu158Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914256"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 632,
          "referenceAllele": "A",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000552573.7:c.485A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447182.3:p.Glu162Gly",
        "hgvsWellDefined": "ENSP00000447182.3:p.Glu162Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914261"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 618,
          "endIntronDirection": "-",
          "endIntronOffset": 4571,
          "referenceAllele": "A",
          "start": 618,
          "startIntronDirection": "-",
          "startIntronOffset": 4572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000548365.6:c.380-4572A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448518.2:n.380-4572A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905821"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 580,
          "referenceAllele": "A",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000549021.6:c.242A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449028.2:p.Glu81Gly",
        "hgvsWellDefined": "ENSP00000449028.2:p.Glu81Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905825"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 684,
          "referenceAllele": "A",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000698941.1:c.485A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514048.1:p.Glu162Gly",
        "hgvsWellDefined": "ENSP00000514048.1:p.Glu162Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909886"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 688,
          "referenceAllele": "A",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000698942.1:c.*476A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514049.1:n.*476A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909887"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 773,
          "referenceAllele": "A",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374994.9:c.680A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364133.4:p.Glu227Gly",
        "hgvsWellDefined": "ENSP00000364133.4:p.Glu227Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374994.9:c.680A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004612.4:c.680A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364133.4:p.Glu227Gly"
          },
          "RefSeq": {
            "hgvs": "NP_004603.1:p.Glu227Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 544,
          "referenceAllele": "A",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374990.6:c.449A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364129.2:p.Glu150Gly",
        "hgvsWellDefined": "ENSP00000364129.2:p.Glu150Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247114"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 797,
          "referenceAllele": "A",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374994.8:c.680A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364133.4:p.Glu227Gly",
        "hgvsWellDefined": "ENSP00000364133.4:p.Glu227Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247264"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 580,
          "referenceAllele": "A",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000549021.5:c.242A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449028.1:p.Glu81Gly",
        "hgvsWellDefined": "ENSP00000449028.1:p.Glu81Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247298"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 748,
          "referenceAllele": "A",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000549766.5:c.692A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446685.1:p.Glu231Gly",
        "hgvsWellDefined": "ENSP00000446685.1:p.Glu231Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367656"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 670,
          "referenceAllele": "A",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000550253.1:c.473A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450052.1:p.Glu158Gly",
        "hgvsWellDefined": "ENSP00000450052.1:p.Glu158Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 748,
          "referenceAllele": "A",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000552516.5:c.692A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447297.1:p.Glu231Gly",
        "hgvsWellDefined": "ENSP00000447297.1:p.Glu231Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247220"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 525,
          "referenceAllele": "A",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.1:c.449A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:p.Glu150Gly",
        "hgvsWellDefined": "NP_001124388.1:p.Glu150Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 566,
          "referenceAllele": "A",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.2:c.449A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:p.Glu150Gly",
        "hgvsWellDefined": "NP_001124388.1:p.Glu150Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 809,
          "referenceAllele": "A",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001306210.1:c.692A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293139.1:p.Glu231Gly",
        "hgvsWellDefined": "NP_001293139.1:p.Glu231Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075921413",
      "coordinates": [
        {
          "allele": "G",
          "end": 756,
          "referenceAllele": "A",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.2:c.680A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:p.Glu227Gly",
        "hgvsWellDefined": "NP_004603.1:p.Glu227Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029766"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075921413",
      "coordinates": [
        {
          "allele": "G",
          "end": 797,
          "referenceAllele": "A",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.3:c.680A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:p.Glu227Gly",
        "hgvsWellDefined": "NP_004603.1:p.Glu227Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029767"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 724,
          "referenceAllele": "A",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518948.1:c.485A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517250.1:p.Glu162Gly",
        "hgvsWellDefined": "XP_011517250.1:p.Glu162Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518949.1:c.473A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517251.1:p.Glu158Gly",
        "hgvsWellDefined": "XP_011517251.1:p.Glu158Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 575,
          "referenceAllele": "A",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518950.1:c.242A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517252.1:p.Glu81Gly",
        "hgvsWellDefined": "XP_011517252.1:p.Glu81Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086124"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 724,
          "referenceAllele": "A",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518948.2:c.485A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517250.1:p.Glu162Gly",
        "hgvsWellDefined": "XP_011517250.1:p.Glu162Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518949.2:c.473A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517251.1:p.Glu158Gly",
        "hgvsWellDefined": "XP_011517251.1:p.Glu158Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545150"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3754,
          "referenceAllele": "A",
          "start": 3753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518950.2:c.242A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517252.1:p.Glu81Gly",
        "hgvsWellDefined": "XP_011517252.1:p.Glu81Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 687,
          "referenceAllele": "A",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_017015063.1:c.485A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870552.1:p.Glu162Gly",
        "hgvsWellDefined": "XP_016870552.1:p.Glu162Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567899"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3979,
          "referenceAllele": "A",
          "start": 3978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_024447658.1:c.473A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303426.1:p.Glu158Gly",
        "hgvsWellDefined": "XP_024303426.1:p.Glu158Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075921413",
      "coordinates": [
        {
          "allele": "G",
          "end": 773,
          "referenceAllele": "A",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.4:c.680A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:p.Glu227Gly",
        "hgvsWellDefined": "NP_004603.1:p.Glu227Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666569",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374994.9:c.680A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004612.4:c.680A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364133.4:p.Glu227Gly"
          },
          "RefSeq": {
            "hgvs": "NP_004603.1:p.Glu227Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 542,
          "referenceAllele": "A",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.3:c.449A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:p.Glu150Gly",
        "hgvsWellDefined": "NP_001124388.1:p.Glu150Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 785,
          "referenceAllele": "A",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001306210.2:c.692A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293139.1:p.Glu231Gly",
        "hgvsWellDefined": "NP_001293139.1:p.Glu231Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683870"
    }
  ],
  "type": "nucleotide"
}