{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8372338", "communityStandardTitle": [ "NM_025099.6(CTC1):c.1459A>G (p.Arg487Gly)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=375806[alleleid]", "alleleId": 375806, "preferredName": "NM_025099.6(CTC1):c.1459A>G (p.Arg487Gly)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/392201", "RCV": [ "RCV000428927", "RCV000634491", "RCV001807251" ], "variationId": 392201 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/17-8138225-T-C", "id": "17-8138225-T-C", "variant": "17:8138225 T / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.8138225T>C?assembly=hg19", "id": "chr17:g.8138225T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.8234907T>C?assembly=hg38", "id": "chr17:g.8234907T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/747887601", "rs": 747887601 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-8234907-T-C?dataset=gnomad_r3", "id": "17-8234907-T-C", "variant": "17:8234907 T / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-8234907-T-C?dataset=gnomad_r4", "id": "17-8234907-T-C", "variant": "17:8234907 T / C" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "C", "end": 8234907, "referenceAllele": "T", "start": 8234906 } ], "hgvs": [ "NC_000017.11:g.8234907T>C", "CM000679.2:g.8234907T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "C", "end": 8138225, "referenceAllele": "T", "start": 8138224 } ], "hgvs": [ "NC_000017.10:g.8138225T>C", "CM000679.1:g.8138225T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "C", "end": 8078950, "referenceAllele": "T", "start": 8078949 } ], "hgvs": [ "NC_000017.9:g.8078950T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "G", "end": 18189, "referenceAllele": "A", "start": 18188 } ], "hgvs": [ "NG_032148.1:g.18189A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS005144" }, { "coordinates": [ { "allele": "G", "end": 18189, "referenceAllele": "A", "start": 18188 } ], "hgvs": [ "NG_032148.2:g.18189A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS616334" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1481, "referenceAllele": "A", "start": 1480 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000580299.2:c.1459A>G" ], "proteinEffect": { "hgvs": "ENSP00000462607.2:p.Arg487Gly", "hgvsWellDefined": "ENSP00000462607.2:p.Arg487Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS906027" }, { "coordinates": [ { "allele": "G", "end": 1481, "referenceAllele": "A", "start": 1480 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000581729.2:c.1459A>G" ], "proteinEffect": { "hgvs": "ENSP00000462720.2:p.Arg487Gly", "hgvsWellDefined": "ENSP00000462720.2:p.Arg487Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS906034" }, { "coordinates": [ { "allele": "G", "end": 1481, "referenceAllele": "A", "start": 1480 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000581967.2:n.1481A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS906036" }, { "coordinates": [ { "allele": "G", "end": 1642, "referenceAllele": "A", "start": 1641 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000583254.2:n.1642A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS906041" }, { "coordinates": [ { "allele": "G", "end": 1300, "referenceAllele": "A", "start": 1299 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699849.1:c.562A>G" ], "proteinEffect": { "hgvs": "ENSP00000514647.1:p.Arg188Gly", "hgvsWellDefined": "ENSP00000514647.1:p.Arg188Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS910721" }, { "coordinates": [ { "allele": "G", "end": 722, "referenceAllele": "A", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699850.1:n.722A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910722" }, { "coordinates": [ { "allele": "G", "end": 1481, "referenceAllele": "A", "start": 1480 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699851.1:n.1481A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910723" }, { "coordinates": [ { "allele": "G", "end": 1481, "referenceAllele": "A", "start": 1480 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699852.1:c.1459A>G" ], "proteinEffect": { "hgvs": "ENSP00000514648.1:p.Arg487Gly", "hgvsWellDefined": "ENSP00000514648.1:p.Arg487Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS910724" }, { "coordinates": [ { "allele": "G", "end": 1481, "referenceAllele": "A", "start": 1480 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699853.1:c.1459A>G" ], "proteinEffect": { "hgvs": "ENSP00000514649.1:p.Arg487Gly", "hgvsWellDefined": "ENSP00000514649.1:p.Arg487Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS910725" }, { "coordinates": [ { "allele": "G", "end": 1252, "referenceAllele": "A", "start": 1251 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699854.1:n.1252A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910726" }, { "coordinates": [ { "allele": "G", "end": 1481, "referenceAllele": "A", "start": 1480 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699855.1:n.1481A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910727" }, { "coordinates": [ { "allele": "G", "end": 1481, "referenceAllele": "A", "start": 1480 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699856.1:c.1459A>G" ], "proteinEffect": { "hgvs": "ENSP00000514650.1:p.Arg487Gly", "hgvsWellDefined": "ENSP00000514650.1:p.Arg487Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS910728" }, { "coordinates": [ { "allele": "G", "end": 1467, "referenceAllele": "A", "start": 1466 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699857.1:n.1467A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910729" }, { "coordinates": [ { "allele": "G", "end": 1327, "referenceAllele": "A", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699858.1:c.*72A>G" ], "proteinEffect": { "hgvs": "ENSP00000514651.1:n.*72A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910730" }, { "coordinates": [ { "allele": "G", "end": 1350, "referenceAllele": "A", "start": 1349 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699859.1:c.1330A>G" ], "proteinEffect": { "hgvs": "ENSP00000514652.1:p.Arg444Gly", "hgvsWellDefined": "ENSP00000514652.1:p.Arg444Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS910731" }, { "coordinates": [ { "allele": "G", "end": 1481, "referenceAllele": "A", "start": 1480 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699861.1:n.1481A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910733" }, { "coordinates": [ { "allele": "G", "end": 1472, "referenceAllele": "A", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699862.1:n.1472A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910734" }, { "coordinates": [ { "allele": "G", "end": 1360, "referenceAllele": "A", "start": 1359 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000449476.7:c.1354A>G" ], "proteinEffect": { "hgvs": "ENSP00000396018.2:p.Arg452Gly", "hgvsWellDefined": "ENSP00000396018.2:p.Arg452Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS756234" }, { "coordinates": [ { "allele": "G", "end": 1300, "referenceAllele": "A", "start": 1299 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000581671.2:n.1300A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS760910" }, { "coordinates": [ { "allele": "G", "end": 1313, "referenceAllele": "A", "start": 1312 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000643543.1:c.*72A>G" ], "proteinEffect": { "hgvs": "ENSP00000494323.1:n.*72A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS767338" }, { "coordinates": [ { "allele": "G", "end": 1479, "referenceAllele": "A", "start": 1478 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000651323.1:c.1459A>G" ], "proteinEffect": { "hgvs": "ENSP00000498499.1:p.Arg487Gly", "hgvsWellDefined": "ENSP00000498499.1:p.Arg487Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS771599", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651323.1:c.1459A>G" }, "RefSeq": { "hgvs": "NM_025099.6:c.1459A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498499.1:p.Arg487Gly" }, "RefSeq": { "hgvs": "NP_079375.3:p.Arg487Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 1467, "referenceAllele": "A", "start": 1466 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000315684.12:c.1459A>G" ], "proteinEffect": { "hgvs": "ENSP00000313759.8:p.Arg487Gly", "hgvsWellDefined": "ENSP00000313759.8:p.Arg487Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS257118" }, { "coordinates": [ { "allele": "G", "end": 1360, "referenceAllele": "A", "start": 1359 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000449476.6:c.1354A>G" ], "proteinEffect": { "hgvs": "ENSP00000396018.2:p.Arg452Gly", "hgvsWellDefined": "ENSP00000396018.2:p.Arg452Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS300236" }, { "coordinates": [ { "allele": "G", "end": 334, "referenceAllele": "A", "start": 333 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000579066.1:n.334A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS385669" }, { "@id": "http://reg.genome.network/allele/PA645465936", "coordinates": [ { "allele": "G", "end": 1518, "referenceAllele": "A", "start": 1517 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NM_025099.5:c.1459A>G" ], "proteinEffect": { "hgvs": "NP_079375.3:p.Arg487Gly", "hgvsWellDefined": "NP_079375.3:p.Arg487Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS038199" }, { "coordinates": [ { "allele": "G", "end": 1413, "referenceAllele": "A", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NR_046431.1:n.1413A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS051686" }, { "coordinates": [ { "allele": "G", "end": 1373, "referenceAllele": "A", "start": 1372 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721577.2:c.1330A>G" ], "proteinEffect": { "hgvs": "XP_006721640.1:p.Arg444Gly", "hgvsWellDefined": "XP_006721640.1:p.Arg444Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS074141" }, { "coordinates": [ { "allele": "G", "end": 1502, "referenceAllele": "A", "start": 1501 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721578.2:c.1459A>G" ], "proteinEffect": { "hgvs": "XP_006721641.1:p.Arg487Gly", "hgvsWellDefined": "XP_006721641.1:p.Arg487Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS074142" }, { "coordinates": [ { "allele": "G", "end": 1502, "referenceAllele": "A", "start": 1501 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721579.2:c.1459A>G" ], "proteinEffect": { "hgvs": "XP_006721642.1:p.Arg487Gly", "hgvsWellDefined": "XP_006721642.1:p.Arg487Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS074143" }, { "coordinates": [ { "allele": "G", "end": 1397, "referenceAllele": "A", "start": 1396 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_011524010.1:c.1354A>G" ], "proteinEffect": { "hgvs": "XP_011522312.1:p.Arg452Gly", "hgvsWellDefined": "XP_011522312.1:p.Arg452Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS091141" }, { "coordinates": [ { "allele": "G", "end": 1267, "referenceAllele": "A", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_011524011.1:c.562A>G" ], "proteinEffect": { "hgvs": "XP_011522313.1:p.Arg188Gly", "hgvsWellDefined": "XP_011522313.1:p.Arg188Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS091142" }, { "coordinates": [ { "allele": "G", "end": 1502, "referenceAllele": "A", "start": 1501 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429823.2:n.1502A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS118501" }, { "coordinates": [ { "allele": "G", "end": 1502, "referenceAllele": "A", "start": 1501 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429824.2:n.1502A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS118502" }, { "coordinates": [ { "allele": "G", "end": 1502, "referenceAllele": "A", "start": 1501 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429825.1:n.1502A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS118503" }, { "@id": "http://reg.genome.network/allele/PA645465936", "coordinates": [ { "allele": "G", "end": 1479, "referenceAllele": "A", "start": 1478 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NM_025099.6:c.1459A>G" ], "proteinEffect": { "hgvs": "NP_079375.3:p.Arg487Gly", "hgvsWellDefined": "NP_079375.3:p.Arg487Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS526212", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651323.1:c.1459A>G" }, "RefSeq": { "hgvs": "NM_025099.6:c.1459A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498499.1:p.Arg487Gly" }, "RefSeq": { "hgvs": "NP_079375.3:p.Arg487Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 1373, "referenceAllele": "A", "start": 1372 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721577.3:c.1330A>G" ], "proteinEffect": { "hgvs": "XP_006721640.1:p.Arg444Gly", "hgvsWellDefined": "XP_006721640.1:p.Arg444Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS540328" }, { "coordinates": [ { "allele": "G", "end": 1502, "referenceAllele": "A", "start": 1501 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721578.3:c.1459A>G" ], "proteinEffect": { "hgvs": "XP_006721641.1:p.Arg487Gly", "hgvsWellDefined": "XP_006721641.1:p.Arg487Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS540329" }, { "coordinates": [ { "allele": "G", "end": 1397, "referenceAllele": "A", "start": 1396 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_011524010.2:c.1354A>G" ], "proteinEffect": { "hgvs": "XP_011522312.1:p.Arg452Gly", "hgvsWellDefined": "XP_011522312.1:p.Arg452Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS547284" }, { "coordinates": [ { "allele": "G", "end": 1267, "referenceAllele": "A", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_011524011.2:c.562A>G" ], "proteinEffect": { "hgvs": "XP_011522313.1:p.Arg188Gly", "hgvsWellDefined": "XP_011522313.1:p.Arg188Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS547285" }, { "coordinates": [ { "allele": "G", "end": 1373, "referenceAllele": "A", "start": 1372 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752639.1:n.1373A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS599316" }, { "coordinates": [ { "allele": "G", "end": 1502, "referenceAllele": "A", "start": 1501 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752640.1:n.1502A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS599317" }, { "coordinates": [ { "allele": "G", "end": 1502, "referenceAllele": "A", "start": 1501 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752641.1:n.1502A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS599318" }, { "coordinates": [ { "allele": "G", "end": 1502, "referenceAllele": "A", "start": 1501 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752642.1:n.1502A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS599319" }, { "coordinates": [ { "allele": "G", "end": 1502, "referenceAllele": "A", "start": 1501 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752643.1:n.1502A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS599320" }, { "coordinates": [ { "allele": "G", "end": 1502, "referenceAllele": "A", "start": 1501 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752644.1:n.1502A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS599321" }, { "coordinates": [ { "allele": "G", "end": 1502, "referenceAllele": "A", "start": 1501 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_002958073.1:n.1502A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS604200" }, { "coordinates": [ { "allele": "G", "end": 1502, "referenceAllele": "A", "start": 1501 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429823.3:n.1502A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS606713" }, { "coordinates": [ { "allele": "G", "end": 1502, "referenceAllele": "A", "start": 1501 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429824.3:n.1502A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS606714" }, { "coordinates": [ { "allele": "G", "end": 1374, "referenceAllele": "A", "start": 1373 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NR_046431.2:n.1374A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS702498" } ], "type": "nucleotide" }