{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10576747", "communityStandardTitle": [ "NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=229677[alleleid]", "alleleId": 229677, "preferredName": "NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/227176", "RCV": [ "RCV000220213", "RCV002054940", "RCV002485379" ], "variationId": 227176 } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.133442704C>T?assembly=hg38", "id": "chr9:g.133442704C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/41314453", "rs": 41314453 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-133442704-C-T?dataset=gnomad_r3", "id": "9-133442704-C-T", "variant": "9:133442704 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-133442704-C-T?dataset=gnomad_r4", "id": "9-133442704-C-T", "variant": "9:133442704 C / T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 133442704, "referenceAllele": "C", "start": 133442703 } ], "hgvs": [ "NC_000009.12:g.133442704C>T", "CM000671.2:g.133442704C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 135297646, "referenceAllele": "C", "start": 135297645 } ], "hgvs": [ "NC_000009.10:g.135297646C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 33366, "referenceAllele": "C", "start": 33365 } ], "hgvs": [ "NG_011934.2:g.33366C>T", "LRG_544:g.33366C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002061" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2272, "referenceAllele": "C", "start": 2271 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "ENST00000355699.7:c.2195C>T" ], "proteinEffect": { "hgvs": "ENSP00000347927.2:p.Ala732Val", "hgvsWellDefined": "ENSP00000347927.2:p.Ala732Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS748708", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355699.7:c.2195C>T" }, "RefSeq": { "hgvs": "NM_139027.6:c.2195C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347927.2:p.Ala732Val" }, "RefSeq": { "hgvs": "NP_620596.2:p.Ala732Val" } } } }, { "coordinates": [ { "allele": "T", "end": 2315, "referenceAllele": "C", "start": 2314 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "ENST00000355699.6:c.2195C>T" ], "proteinEffect": { "hgvs": "ENSP00000347927.2:p.Ala732Val", "hgvsWellDefined": "ENSP00000347927.2:p.Ala732Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS263520" }, { "coordinates": [ { "allele": "T", "end": 2222, "referenceAllele": "C", "start": 2221 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "ENST00000356589.6:c.2102C>T" ], "proteinEffect": { "hgvs": "ENSP00000348997.2:p.Ala701Val", "hgvsWellDefined": "ENSP00000348997.2:p.Ala701Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS263811" }, { "coordinates": [ { "allele": "T", "end": 2412, "endIntronDirection": "-", "endIntronOffset": 2158, "referenceAllele": "C", "start": 2412, "startIntronDirection": "-", "startIntronOffset": 2159 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "ENST00000371916.5:c.1225-2159C>T" ], "proteinEffect": { "hgvs": "ENSP00000360984.2:n.1225-2159C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS268820" }, { "coordinates": [ { "allele": "T", "end": 2639, "referenceAllele": "C", "start": 2638 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "ENST00000371929.7:c.2195C>T" ], "proteinEffect": { "hgvs": "ENSP00000360997.3:p.Ala732Val", "hgvsWellDefined": "ENSP00000360997.3:p.Ala732Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS268829" }, { "coordinates": [ { "allele": "T", "end": 1722, "endIntronDirection": "-", "endIntronOffset": 671, "referenceAllele": "C", "start": 1722, "startIntronDirection": "-", "startIntronOffset": 672 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "ENST00000474918.1:c.*773-672C>T" ], "proteinEffect": { "hgvs": "ENSP00000435305.1:n.*773-672C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS316316" }, { "coordinates": [ { "allele": "T", "end": 1236, "endIntronDirection": "-", "endIntronOffset": 2158, "referenceAllele": "C", "start": 1236, "startIntronDirection": "-", "startIntronOffset": 2159 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "ENST00000485925.5:n.1237-2159C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS324843" }, { "coordinates": [ { "allele": "T", "end": 2407, "endIntronDirection": "-", "endIntronOffset": 2158, "referenceAllele": "C", "start": 2407, "startIntronDirection": "-", "startIntronOffset": 2159 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "ENST00000495234.5:c.*1253-2159C>T" ], "proteinEffect": { "hgvs": "ENSP00000435274.1:n.*1253-2159C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS331974" }, { "@id": "http://reg.genome.network/allele/PA645384734", "coordinates": [ { "allele": "T", "end": 2639, "referenceAllele": "C", "start": 2638 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NM_139025.4:c.2195C>T", "LRG_544t1:c.2195C>T" ], "proteinEffect": { "hgvs": "NP_620594.1:p.Ala732Val", "hgvsWellDefined": "NP_620594.1:p.Ala732Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS040955" }, { "@id": "http://reg.genome.network/allele/PA2830272134", "coordinates": [ { "allele": "T", "end": 2546, "referenceAllele": "C", "start": 2545 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NM_139026.4:c.2102C>T" ], "proteinEffect": { "hgvs": "NP_620595.1:p.Ala701Val", "hgvsWellDefined": "NP_620595.1:p.Ala701Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS040956" }, { "@id": "http://reg.genome.network/allele/PA916071956", "coordinates": [ { "allele": "T", "end": 2639, "referenceAllele": "C", "start": 2638 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NM_139027.4:c.2195C>T" ], "proteinEffect": { "hgvs": "NP_620596.2:p.Ala732Val", "hgvsWellDefined": "NP_620596.2:p.Ala732Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS040957" }, { "coordinates": [ { "allele": "T", "end": 1255, "endIntronDirection": "-", "endIntronOffset": 2158, "referenceAllele": "C", "start": 1255, "startIntronDirection": "-", "startIntronOffset": 2159 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NR_024514.2:n.1256-2159C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS047021" }, { "coordinates": [ { "allele": "T", "end": 2112, "referenceAllele": "C", "start": 2111 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518174.1:c.1805C>T" ], "proteinEffect": { "hgvs": "XP_011516476.1:p.Ala602Val", "hgvsWellDefined": "XP_011516476.1:p.Ala602Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS085350" }, { "coordinates": [ { "allele": "T", "end": 3420, "referenceAllele": "C", "start": 3419 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518175.1:c.2195C>T" ], "proteinEffect": { "hgvs": "XP_011516477.1:p.Ala732Val", "hgvsWellDefined": "XP_011516477.1:p.Ala732Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS085351" }, { "coordinates": [ { "allele": "T", "end": 1291, "referenceAllele": "C", "start": 1290 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518176.1:c.1211C>T" ], "proteinEffect": { "hgvs": "XP_011516478.1:p.Ala404Val", "hgvsWellDefined": "XP_011516478.1:p.Ala404Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS085352" }, { "coordinates": [ { "allele": "T", "end": 1285, "referenceAllele": "C", "start": 1284 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518177.1:c.1205C>T" ], "proteinEffect": { "hgvs": "XP_011516479.1:p.Ala402Val", "hgvsWellDefined": "XP_011516479.1:p.Ala402Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS085353" }, { "coordinates": [ { "allele": "T", "end": 965, "referenceAllele": "C", "start": 964 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518178.1:c.860C>T" ], "proteinEffect": { "hgvs": "XP_011516480.1:p.Ala287Val", "hgvsWellDefined": "XP_011516480.1:p.Ala287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS085354" }, { "coordinates": [ { "allele": "T", "end": 1008, "referenceAllele": "C", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518179.1:c.860C>T" ], "proteinEffect": { "hgvs": "XP_011516481.1:p.Ala287Val", "hgvsWellDefined": "XP_011516481.1:p.Ala287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS085355" }, { "coordinates": [ { "allele": "T", "end": 1911, "endIntronDirection": "-", "endIntronOffset": 2158, "referenceAllele": "C", "start": 1911, "startIntronDirection": "-", "startIntronOffset": 2159 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518180.1:c.687-2159C>T" ], "proteinEffect": { "hgvs": "XP_011516482.1:n.687-2159C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS085356" }, { "coordinates": [ { "allele": "T", "end": 1291, "referenceAllele": "C", "start": 1290 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518176.3:c.1211C>T" ], "proteinEffect": { "hgvs": "XP_011516478.1:p.Ala404Val", "hgvsWellDefined": "XP_011516478.1:p.Ala404Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS544806" }, { "coordinates": [ { "allele": "T", "end": 965, "referenceAllele": "C", "start": 964 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518178.2:c.860C>T" ], "proteinEffect": { "hgvs": "XP_011516480.1:p.Ala287Val", "hgvsWellDefined": "XP_011516480.1:p.Ala287Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS544807" }, { "coordinates": [ { "allele": "T", "end": 2850, "referenceAllele": "C", "start": 2849 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_017014232.1:c.2183C>T" ], "proteinEffect": { "hgvs": "XP_016869721.1:p.Ala728Val", "hgvsWellDefined": "XP_016869721.1:p.Ala728Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS567255" }, { "coordinates": [ { "allele": "T", "end": 2251, "referenceAllele": "C", "start": 2250 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_017014233.1:c.1805C>T" ], "proteinEffect": { "hgvs": "XP_016869722.1:p.Ala602Val", "hgvsWellDefined": "XP_016869722.1:p.Ala602Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS567256" }, { "coordinates": [ { "allele": "T", "end": 1439, "referenceAllele": "C", "start": 1438 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_017014234.2:c.1205C>T" ], "proteinEffect": { "hgvs": "XP_016869723.1:p.Ala402Val", "hgvsWellDefined": "XP_016869723.1:p.Ala402Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS567257" }, { "coordinates": [ { "allele": "T", "end": 3420, "referenceAllele": "C", "start": 3419 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_017014235.1:c.2195C>T" ], "proteinEffect": { "hgvs": "XP_016869724.1:p.Ala732Val", "hgvsWellDefined": "XP_016869724.1:p.Ala732Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS567258" }, { "coordinates": [ { "allele": "T", "end": 3193, "endIntronDirection": "-", "endIntronOffset": 2158, "referenceAllele": "C", "start": 3193, "startIntronDirection": "-", "startIntronOffset": 2159 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XR_001746171.1:n.3194-2159C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594527" }, { "@id": "http://reg.genome.network/allele/PA2830272134", "coordinates": [ { "allele": "T", "end": 2179, "referenceAllele": "C", "start": 2178 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NM_139026.5:c.2102C>T" ], "proteinEffect": { "hgvs": "NP_620595.1:p.Ala701Val", "hgvsWellDefined": "NP_620595.1:p.Ala701Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS699826" }, { "@id": "http://reg.genome.network/allele/PA916071956", "coordinates": [ { "allele": "T", "end": 2272, "referenceAllele": "C", "start": 2271 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NM_139027.5:c.2195C>T" ], "proteinEffect": { "hgvs": "NP_620596.2:p.Ala732Val", "hgvsWellDefined": "NP_620596.2:p.Ala732Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS699827" }, { "@id": "http://reg.genome.network/allele/PA645384734", "coordinates": [ { "allele": "T", "end": 2272, "referenceAllele": "C", "start": 2271 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NM_139025.5:c.2195C>T" ], "proteinEffect": { "hgvs": "NP_620594.1:p.Ala732Val", "hgvsWellDefined": "NP_620594.1:p.Ala732Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS729201" }, { "@id": "http://reg.genome.network/allele/PA2830272134", "coordinates": [ { "allele": "T", "end": 2179, "referenceAllele": "C", "start": 2178 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NM_139026.6:c.2102C>T" ], "proteinEffect": { "hgvs": "NP_620595.1:p.Ala701Val", "hgvsWellDefined": "NP_620595.1:p.Ala701Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS729202" }, { "@id": "http://reg.genome.network/allele/PA916071956", "coordinates": [ { "allele": "T", "end": 2272, "referenceAllele": "C", "start": 2271 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NM_139027.6:c.2195C>T" ], "proteinEffect": { "hgvs": "NP_620596.2:p.Ala732Val", "hgvsWellDefined": "NP_620596.2:p.Ala732Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS729203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355699.7:c.2195C>T" }, "RefSeq": { "hgvs": "NM_139027.6:c.2195C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347927.2:p.Ala732Val" }, "RefSeq": { "hgvs": "NP_620596.2:p.Ala732Val" } } } }, { "coordinates": [ { "allele": "T", "end": 1257, "endIntronDirection": "-", "endIntronOffset": 2158, "referenceAllele": "C", "start": 1257, "startIntronDirection": "-", "startIntronOffset": 2159 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NR_024514.3:n.1258-2159C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS730190" } ], "type": "nucleotide" }