{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6251238",
  "communityStandardTitle": [
    "NM_002422.5(MMP3):c.133A>G (p.Lys45Glu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM428296"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=390564[alleleid]",
        "alleleId": 390564,
        "preferredName": "NM_002422.5(MMP3):c.133A>G (p.Lys45Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/403098",
        "RCV": [
          "RCV000454524",
          "RCV001598670"
        ],
        "variationId": 403098
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-102713620-T-C",
        "id": "11-102713620-T-C",
        "variant": "11:102713620 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.102713620T>C?assembly=hg19",
        "id": "chr11:g.102713620T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.102842889T>C?assembly=hg38",
        "id": "chr11:g.102842889T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/679620",
        "rs": 679620
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-102713620-T-C?dataset=gnomad_r2_1",
        "id": "11-102713620-T-C",
        "variant": "11:102713620 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-102842889-T-C?dataset=gnomad_r3",
        "id": "11-102842889-T-C",
        "variant": "11:102842889 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-102842889-T-C?dataset=gnomad_r4",
        "id": "11-102842889-T-C",
        "variant": "11:102842889 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 102842889,
          "referenceAllele": "T",
          "start": 102842888
        }
      ],
      "hgvs": [
        "NC_000011.10:g.102842889T>C",
        "CM000673.2:g.102842889T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 102713620,
          "referenceAllele": "T",
          "start": 102713619
        }
      ],
      "hgvs": [
        "NC_000011.9:g.102713620T>C",
        "CM000673.1:g.102713620T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 102218830,
          "referenceAllele": "T",
          "start": 102218829
        }
      ],
      "hgvs": [
        "NC_000011.8:g.102218830T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5723,
          "referenceAllele": "A",
          "start": 5722
        }
      ],
      "hgvs": [
        "NG_012100.1:g.5723A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002184"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 196,
          "referenceAllele": "A",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007173",
      "geneNCBI_id": 4314,
      "geneSymbol": "MMP3",
      "hgvs": [
        "ENST00000299855.10:c.133A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299855.5:p.Lys45Glu",
        "hgvsWellDefined": "ENSP00000299855.5:p.Lys45Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744713",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299855.10:c.133A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002422.5:c.133A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299855.5:p.Lys45Glu"
          },
          "RefSeq": {
            "hgvs": "NP_002413.1:p.Lys45Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 390,
          "referenceAllele": "A",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007173",
      "geneNCBI_id": 4314,
      "geneSymbol": "MMP3",
      "hgvs": [
        "ENST00000299855.9:c.133A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299855.5:p.Lys45Glu",
        "hgvsWellDefined": "ENSP00000299855.5:p.Lys45Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254789"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 165,
          "referenceAllele": "A",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007173",
      "geneNCBI_id": 4314,
      "geneSymbol": "MMP3",
      "hgvs": [
        "ENST00000524478.1:c.104A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435255.1:p.Gln35Arg",
        "hgvsWellDefined": "ENSP00000435255.1:p.Gln35Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350632"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645397787",
      "coordinates": [
        {
          "allele": "G",
          "end": 198,
          "referenceAllele": "A",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007173",
      "geneNCBI_id": 4314,
      "geneSymbol": "MMP3",
      "hgvs": [
        "NM_002422.3:c.133A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002413.1:p.Lys45Glu",
        "hgvsWellDefined": "NP_002413.1:p.Lys45Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246854"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645397787",
      "coordinates": [
        {
          "allele": "G",
          "end": 276,
          "referenceAllele": "A",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007173",
      "geneNCBI_id": 4314,
      "geneSymbol": "MMP3",
      "hgvs": [
        "NM_002422.4:c.133A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002413.1:p.Lys45Glu",
        "hgvsWellDefined": "NP_002413.1:p.Lys45Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027727"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645397787",
      "coordinates": [
        {
          "allele": "G",
          "end": 196,
          "referenceAllele": "A",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007173",
      "geneNCBI_id": 4314,
      "geneSymbol": "MMP3",
      "hgvs": [
        "NM_002422.5:c.133A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002413.1:p.Lys45Glu",
        "hgvsWellDefined": "NP_002413.1:p.Lys45Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665513",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299855.10:c.133A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002422.5:c.133A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299855.5:p.Lys45Glu"
          },
          "RefSeq": {
            "hgvs": "NP_002413.1:p.Lys45Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}