{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA184257", "communityStandardTitle": [ "NM_015404.4(WHRN):c.19G>C (p.Gly7Arg)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4985337", "active": true, "id": "COSM4985337" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4985338", "active": true, "id": "COSM4985338" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=174684[alleleid]", "alleleId": 174684, "preferredName": "NM_015404.4(WHRN):c.19G>C (p.Gly7Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/179353", "RCV": [ "RCV000156142", "RCV001168958", "RCV001422011", "RCV001168959" ], "variationId": 179353 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-117267063-C-G", "id": "9-117267063-C-G", "variant": "9:117267063 C / G" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.117267063C>G?assembly=hg19", "id": "chr9:g.117267063C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.114504783C>G?assembly=hg38", "id": "chr9:g.114504783C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/572671060", "rs": 572671060 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-117267063-C-G?dataset=gnomad_r2_1", "id": "9-117267063-C-G", "variant": "9:117267063 C / G" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-114504783-C-G?dataset=gnomad_r3", "id": "9-114504783-C-G", "variant": "9:114504783 C / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-114504783-C-G?dataset=gnomad_r4", "id": "9-114504783-C-G", "variant": "9:114504783 C / G" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 114504783, "referenceAllele": "C", "start": 114504782 } ], "hgvs": [ "NC_000009.12:g.114504783C>G", "CM000671.2:g.114504783C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 117267063, "referenceAllele": "C", "start": 117267062 } ], "hgvs": [ "NC_000009.11:g.117267063C>G", "CM000671.1:g.117267063C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 116306884, "referenceAllele": "C", "start": 116306883 } ], "hgvs": [ "NC_000009.10:g.116306884C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "C", "end": 5674, "referenceAllele": "G", "start": 5673 } ], "hgvs": [ "NG_016700.1:g.5674G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS003250" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 691, "referenceAllele": "G", "start": 690 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "ENST00000362057.4:c.19G>C" ], "proteinEffect": { "hgvs": "ENSP00000354623.3:p.Gly7Arg", "hgvsWellDefined": "ENSP00000354623.3:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS749586", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000362057.4:c.19G>C" }, "RefSeq": { "hgvs": "NM_015404.4:c.19G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354623.3:p.Gly7Arg" }, "RefSeq": { "hgvs": "NP_056219.3:p.Gly7Arg" } } } }, { "coordinates": [ { "allele": "C", "end": 548, "referenceAllele": "G", "start": 547 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "ENST00000673697.1:c.19G>C" ], "proteinEffect": { "hgvs": "ENSP00000501152.1:p.Gly7Arg", "hgvsWellDefined": "ENSP00000501152.1:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS773797" }, { "coordinates": [ { "allele": "C", "end": 188, "referenceAllele": "G", "start": 187 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "ENST00000362057.3:c.19G>C" ], "proteinEffect": { "hgvs": "ENSP00000354623.3:p.Gly7Arg", "hgvsWellDefined": "ENSP00000354623.3:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS265769" }, { "coordinates": [ { "allele": "C", "end": 668, "referenceAllele": "G", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "ENST00000374057.3:c.19G>C" ], "proteinEffect": { "hgvs": "ENSP00000363170.3:p.Gly7Arg", "hgvsWellDefined": "ENSP00000363170.3:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS270044" }, { "@id": "http://reg.genome.network/allele/PA2826084909", "coordinates": [ { "allele": "C", "end": 674, "referenceAllele": "G", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "NM_001173425.1:c.19G>C" ], "proteinEffect": { "hgvs": "NP_001166896.1:p.Gly7Arg", "hgvsWellDefined": "NP_001166896.1:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS015580" }, { "@id": "http://reg.genome.network/allele/PA184258", "coordinates": [ { "allele": "C", "end": 674, "referenceAllele": "G", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "NM_015404.3:c.19G>C" ], "proteinEffect": { "hgvs": "NP_056219.3:p.Gly7Arg", "hgvsWellDefined": "NP_056219.3:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS033995" }, { "coordinates": [ { "allele": "C", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XM_005251897.3:c.19G>C" ], "proteinEffect": { "hgvs": "XP_005251954.2:p.Gly7Arg", "hgvsWellDefined": "XP_005251954.2:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS059729" }, { "coordinates": [ { "allele": "C", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XM_011518484.1:c.19G>C" ], "proteinEffect": { "hgvs": "XP_011516786.1:p.Gly7Arg", "hgvsWellDefined": "XP_011516786.1:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085658" }, { "coordinates": [ { "allele": "C", "end": 575, "referenceAllele": "G", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XM_011518485.1:c.19G>C" ], "proteinEffect": { "hgvs": "XP_011516787.1:p.Gly7Arg", "hgvsWellDefined": "XP_011516787.1:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085659" }, { "coordinates": [ { "allele": "C", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XM_011518486.1:c.19G>C" ], "proteinEffect": { "hgvs": "XP_011516788.1:p.Gly7Arg", "hgvsWellDefined": "XP_011516788.1:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085660" }, { "coordinates": [ { "allele": "C", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XM_011518487.1:c.19G>C" ], "proteinEffect": { "hgvs": "XP_011516789.1:p.Gly7Arg", "hgvsWellDefined": "XP_011516789.1:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085661" }, { "coordinates": [ { "allele": "C", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XM_011518488.1:c.19G>C" ], "proteinEffect": { "hgvs": "XP_011516790.1:p.Gly7Arg", "hgvsWellDefined": "XP_011516790.1:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085662" }, { "coordinates": [ { "allele": "C", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XM_011518489.1:c.19G>C" ], "proteinEffect": { "hgvs": "XP_011516791.1:p.Gly7Arg", "hgvsWellDefined": "XP_011516791.1:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085663" }, { "coordinates": [ { "allele": "C", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XM_011518490.1:c.19G>C" ], "proteinEffect": { "hgvs": "XP_011516792.1:p.Gly7Arg", "hgvsWellDefined": "XP_011516792.1:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085664" }, { "coordinates": [ { "allele": "C", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XM_011518491.1:c.19G>C" ], "proteinEffect": { "hgvs": "XP_011516793.1:p.Gly7Arg", "hgvsWellDefined": "XP_011516793.1:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085665" }, { "coordinates": [ { "allele": "C", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XM_011518492.1:c.19G>C" ], "proteinEffect": { "hgvs": "XP_011516794.1:p.Gly7Arg", "hgvsWellDefined": "XP_011516794.1:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085666" }, { "coordinates": [ { "allele": "C", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XM_011518493.1:c.19G>C" ], "proteinEffect": { "hgvs": "XP_011516795.1:p.Gly7Arg", "hgvsWellDefined": "XP_011516795.1:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085667" }, { "coordinates": [ { "allele": "C", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XM_011518494.1:c.19G>C" ], "proteinEffect": { "hgvs": "XP_011516796.1:p.Gly7Arg", "hgvsWellDefined": "XP_011516796.1:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS085668" }, { "coordinates": [ { "allele": "C", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XR_929747.1:n.727G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS125876" }, { "coordinates": [ { "allele": "C", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XR_929748.1:n.727G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS125877" }, { "coordinates": [ { "allele": "C", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XR_929749.1:n.727G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS125878" }, { "coordinates": [ { "allele": "C", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XR_929750.1:n.727G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS125879" }, { "coordinates": [ { "allele": "C", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XR_929751.1:n.727G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS125880" }, { "coordinates": [ { "allele": "C", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XR_929752.1:n.727G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS125881" }, { "coordinates": [ { "allele": "C", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XR_929753.1:n.727G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS125882" }, { "coordinates": [ { "allele": "C", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XR_929754.1:n.727G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS125883" }, { "coordinates": [ { "allele": "C", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XR_929755.1:n.727G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS125884" }, { "coordinates": [ { "allele": "C", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XR_929756.1:n.727G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS125885" }, { "coordinates": [ { "allele": "C", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XR_929757.1:n.727G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS125886" }, { "coordinates": [ { "allele": "C", "end": 38, "referenceAllele": "G", "start": 37 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XM_011518486.2:c.19G>C" ], "proteinEffect": { "hgvs": "XP_011516788.1:p.Gly7Arg", "hgvsWellDefined": "XP_011516788.1:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544941" }, { "coordinates": [ { "allele": "C", "end": 38, "referenceAllele": "G", "start": 37 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XM_011518487.2:c.19G>C" ], "proteinEffect": { "hgvs": "XP_011516789.1:p.Gly7Arg", "hgvsWellDefined": "XP_011516789.1:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544942" }, { "coordinates": [ { "allele": "C", "end": 38, "referenceAllele": "G", "start": 37 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XM_011518488.2:c.19G>C" ], "proteinEffect": { "hgvs": "XP_011516790.1:p.Gly7Arg", "hgvsWellDefined": "XP_011516790.1:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544943" }, { "coordinates": [ { "allele": "C", "end": 38, "referenceAllele": "G", "start": 37 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XM_011518489.3:c.19G>C" ], "proteinEffect": { "hgvs": "XP_011516791.1:p.Gly7Arg", "hgvsWellDefined": "XP_011516791.1:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544944" }, { "coordinates": [ { "allele": "C", "end": 38, "referenceAllele": "G", "start": 37 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XM_011518491.3:c.19G>C" ], "proteinEffect": { "hgvs": "XP_011516793.1:p.Gly7Arg", "hgvsWellDefined": "XP_011516793.1:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544945" }, { "coordinates": [ { "allele": "C", "end": 38, "referenceAllele": "G", "start": 37 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XM_011518492.2:c.19G>C" ], "proteinEffect": { "hgvs": "XP_011516794.1:p.Gly7Arg", "hgvsWellDefined": "XP_011516794.1:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544946" }, { "coordinates": [ { "allele": "C", "end": 38, "referenceAllele": "G", "start": 37 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XM_011518494.3:c.19G>C" ], "proteinEffect": { "hgvs": "XP_011516796.1:p.Gly7Arg", "hgvsWellDefined": "XP_011516796.1:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544947" }, { "coordinates": [ { "allele": "C", "end": 38, "referenceAllele": "G", "start": 37 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XR_929747.2:n.38G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS609276" }, { "coordinates": [ { "allele": "C", "end": 38, "referenceAllele": "G", "start": 37 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XR_929748.2:n.38G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS609277" }, { "coordinates": [ { "allele": "C", "end": 38, "referenceAllele": "G", "start": 37 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XR_929749.2:n.38G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS609278" }, { "coordinates": [ { "allele": "C", "end": 38, "referenceAllele": "G", "start": 37 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XR_929750.3:n.38G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS609279" }, { "coordinates": [ { "allele": "C", "end": 38, "referenceAllele": "G", "start": 37 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XR_929752.2:n.38G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS609280" }, { "coordinates": [ { "allele": "C", "end": 38, "referenceAllele": "G", "start": 37 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XR_929753.3:n.38G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS609281" }, { "coordinates": [ { "allele": "C", "end": 38, "referenceAllele": "G", "start": 37 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XR_929754.2:n.38G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS609282" }, { "coordinates": [ { "allele": "C", "end": 38, "referenceAllele": "G", "start": 37 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XR_929755.3:n.38G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS609283" }, { "coordinates": [ { "allele": "C", "end": 38, "referenceAllele": "G", "start": 37 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XR_929756.2:n.38G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS609284" }, { "coordinates": [ { "allele": "C", "end": 38, "referenceAllele": "G", "start": 37 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "XR_929757.2:n.38G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS609285" }, { "@id": "http://reg.genome.network/allele/PA184258", "coordinates": [ { "allele": "C", "end": 691, "referenceAllele": "G", "start": 690 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "NM_015404.4:c.19G>C" ], "proteinEffect": { "hgvs": "NP_056219.3:p.Gly7Arg", "hgvsWellDefined": "NP_056219.3:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS668748", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000362057.4:c.19G>C" }, "RefSeq": { "hgvs": "NM_015404.4:c.19G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354623.3:p.Gly7Arg" }, "RefSeq": { "hgvs": "NP_056219.3:p.Gly7Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2826084909", "coordinates": [ { "allele": "C", "end": 691, "referenceAllele": "G", "start": 690 } ], "gene": "http://reg.genome.network/gene/GN016361", "geneNCBI_id": 25861, "geneSymbol": "WHRN", "hgvs": [ "NM_001173425.2:c.19G>C" ], "proteinEffect": { "hgvs": "NP_001166896.1:p.Gly7Arg", "hgvsWellDefined": "NP_001166896.1:p.Gly7Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS678805" } ], "type": "nucleotide" }