{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA379784330", "communityStandardTitle": [ "NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5435865", "active": true, "id": "COSM5435865" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1329602[alleleid]", "alleleId": 1329602, "preferredName": "NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1338595", "RCV": [ "RCV001817966", "RCV002503329", "RCV003464153" ], "variationId": 1338595 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.17491722G>A?assembly=hg19", "id": "chr11:g.17491722G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.17470175G>A?assembly=hg38", "id": "chr11:g.17470175G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2133711315", "rs": 2133711315 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-17470175-G-A?dataset=gnomad_r4", "id": "11-17470175-G-A", "variant": "11:17470175 G / A" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 17470175, "referenceAllele": "G", "start": 17470174 } ], "hgvs": [ "NC_000011.10:g.17470175G>A", "CM000673.2:g.17470175G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 17491722, "referenceAllele": "G", "start": 17491721 } ], "hgvs": [ "NC_000011.9:g.17491722G>A", "CM000673.1:g.17491722G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 17448298, "referenceAllele": "G", "start": 17448297 } ], "hgvs": [ "NC_000011.8:g.17448298G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 11728, "referenceAllele": "C", "start": 11727 } ], "hgvs": [ "NG_008867.1:g.11728C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001262" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000524561.2:n.407C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS825694" }, { "coordinates": [ { "allele": "T", "end": 351, "referenceAllele": "C", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000526002.2:n.351C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS825714" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000528202.6:n.407C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS825750" }, { "coordinates": [ { "allele": "T", "end": 239, "referenceAllele": "C", "start": 238 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000612903.2:n.239C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS826431" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642611.2:n.407C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS826721" }, { "coordinates": [ { "allele": "T", "end": 351, "referenceAllele": "C", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682051.1:n.351C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827049" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682091.1:n.407C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827088" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682110.1:n.407C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827107" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682140.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000507829.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000507829.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS827137" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682199.1:n.407C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827195" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682204.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000507094.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000507094.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS827200" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682215.1:n.407C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827211" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682288.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000507506.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000507506.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS827283" }, { "coordinates": [ { "allele": "T", "end": 438, "referenceAllele": "C", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682442.1:n.438C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827432" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682528.1:n.407C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827518" }, { "coordinates": [ { "allele": "T", "end": 351, "referenceAllele": "C", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682673.1:n.351C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827662" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682805.1:n.407C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827794" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682863.1:n.407C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827851" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682965.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000508229.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000508229.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS827953" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683093.1:n.407C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828078" }, { "coordinates": [ { "allele": "T", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683136.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000507768.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000507768.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS828121" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683153.1:n.407C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828138" }, { "coordinates": [ { "allele": "T", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683253.1:n.412C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828235" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683365.1:n.407C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828345" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683377.1:n.407C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828356" }, { "coordinates": [ { "allele": "T", "end": 416, "referenceAllele": "C", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683456.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000508318.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000508318.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS828432" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683522.1:n.407C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828496" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683531.1:n.407C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828505" }, { "coordinates": [ { "allele": "T", "end": 453, "referenceAllele": "C", "start": 452 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683562.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000508265.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000508265.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS828535" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683693.1:n.407C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828664" }, { "coordinates": [ { "allele": "T", "end": 363, "referenceAllele": "C", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683725.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000507496.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000507496.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS828696" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684010.1:n.407C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828972" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684157.1:n.407C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829115" }, { "coordinates": [ { "allele": "T", "end": 268, "referenceAllele": "C", "start": 267 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684221.1:n.268C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829178" }, { "coordinates": [ { "allele": "T", "end": 456, "referenceAllele": "C", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684253.1:n.456C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829210" }, { "coordinates": [ { "allele": "T", "end": 414, "referenceAllele": "C", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684288.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000507143.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000507143.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS829244" }, { "coordinates": [ { "allele": "T", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684313.1:n.434C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829269" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684332.1:n.407C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829287" }, { "coordinates": [ { "allele": "T", "end": 351, "referenceAllele": "C", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684371.1:n.351C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829326" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684404.1:n.407C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829359" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684442.1:n.407C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829396" }, { "coordinates": [ { "allele": "T", "end": 406, "referenceAllele": "C", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684555.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000507705.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000507705.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS829508" }, { "coordinates": [ { "allele": "T", "end": 379, "referenceAllele": "C", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684571.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000506935.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000506935.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS829524" }, { "coordinates": [ { "allele": "T", "end": 272, "referenceAllele": "C", "start": 271 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684593.1:c.*43C>T" ], "proteinEffect": { "hgvs": "ENSP00000507005.1:n.*43C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS829545" }, { "coordinates": [ { "allele": "T", "end": 238, "referenceAllele": "C", "start": 237 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684614.1:n.238C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829566" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684711.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000506841.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000506841.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS829662" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000302539.9:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000303960.4:p.Ala113Val", "hgvsWellDefined": "ENSP00000303960.4:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS744957" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000389817.8:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000374467.4:p.Ala113Val", "hgvsWellDefined": "ENSP00000374467.4:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS752843", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389817.8:c.338C>T" }, "RefSeq": { "hgvs": "NM_000352.6:c.338C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374467.4:p.Ala113Val" }, "RefSeq": { "hgvs": "NP_000343.2:p.Ala113Val" } } } }, { "coordinates": [ { "allele": "T", "end": 217, "referenceAllele": "C", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000532728.6:c.217C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS759302" }, { "coordinates": [ { "allele": "T", "end": 369, "referenceAllele": "C", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000635881.1:n.369C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS762707" }, { "coordinates": [ { "allele": "T", "end": 373, "referenceAllele": "C", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642271.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000493749.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000493749.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS766651" }, { "coordinates": [ { "allele": "T", "end": 292, "referenceAllele": "C", "start": 291 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642611.1:n.292C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766837" }, { "coordinates": [ { "allele": "T", "end": 322, "referenceAllele": "C", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642902.1:c.322C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766980" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000643260.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000494450.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000494450.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS767182" }, { "coordinates": [ { "allele": "T", "end": 406, "referenceAllele": "C", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000643562.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000496124.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000496124.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS767346" }, { "coordinates": [ { "allele": "T", "end": 441, "referenceAllele": "C", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644472.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000495378.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000495378.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS767832" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644484.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000493558.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000493558.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS767838" }, { "coordinates": [ { "allele": "T", "end": 261, "referenceAllele": "C", "start": 260 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644542.1:c.*43C>T" ], "proteinEffect": { "hgvs": "ENSP00000495532.1:n.*43C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767872" }, { "coordinates": [ { "allele": "T", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644675.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000494567.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000494567.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS767931" }, { "coordinates": [ { "allele": "T", "end": 419, "referenceAllele": "C", "start": 418 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644757.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000495085.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000495085.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS767980" }, { "coordinates": [ { "allele": "T", "end": 369, "referenceAllele": "C", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644772.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000494321.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000494321.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS767987" }, { "coordinates": [ { "allele": "T", "end": 405, "referenceAllele": "C", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645744.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000494564.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000494564.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS768524" }, { "coordinates": [ { "allele": "T", "end": 331, "referenceAllele": "C", "start": 330 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645760.1:c.331C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768531" }, { "coordinates": [ { "allele": "T", "end": 406, "referenceAllele": "C", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645884.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000495516.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000495516.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS768584" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646003.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000495259.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000495259.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS768646" }, { "coordinates": [ { "allele": "T", "end": 346, "referenceAllele": "C", "start": 345 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646207.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000495025.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000495025.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS768754" }, { "coordinates": [ { "allele": "T", "end": 414, "referenceAllele": "C", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646276.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000496070.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000496070.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS768789" }, { "coordinates": [ { "allele": "T", "end": 358, "endIntronDirection": "+", "endIntronOffset": 4711, "referenceAllele": "C", "start": 358, "startIntronDirection": "+", "startIntronOffset": 4710 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646737.1:c.290+4711C>T" ], "proteinEffect": { "hgvs": "ENSP00000494874.1:n.290+4711C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769041" }, { "coordinates": [ { "allele": "T", "end": 406, "referenceAllele": "C", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646902.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000494101.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000494101.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS769127" }, { "coordinates": [ { "allele": "T", "end": 396, "referenceAllele": "C", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646993.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000493720.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000493720.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS769179" }, { "coordinates": [ { "allele": "T", "end": 236, "referenceAllele": "C", "start": 235 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647013.1:c.236C>T" ], "proteinEffect": { "hgvs": "ENSP00000496741.1:p.Ala79Val", "hgvsWellDefined": "ENSP00000496741.1:p.Ala79Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS769189" }, { "coordinates": [ { "allele": "T", "end": 406, "referenceAllele": "C", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647015.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000495389.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000495389.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS769191" }, { "coordinates": [ { "allele": "T", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647086.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000493677.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000493677.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS769226" }, { "coordinates": [ { "allele": "T", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647158.1:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000495744.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000495744.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS769267" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000302539.8:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000303960.4:p.Ala113Val", "hgvsWellDefined": "ENSP00000303960.4:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS255198" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000389817.7:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000374467.3:p.Ala113Val", "hgvsWellDefined": "ENSP00000374467.3:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS274297" }, { "coordinates": [ { "allele": "T", "end": 381, "referenceAllele": "C", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000527905.5:c.338C>T" ], "proteinEffect": { "hgvs": "ENSP00000431653.1:p.Ala113Val", "hgvsWellDefined": "ENSP00000431653.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS353525" }, { "coordinates": [ { "allele": "T", "end": 369, "referenceAllele": "C", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000532728.5:n.369C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS357611" }, { "@id": "http://reg.genome.network/allele/PA2825147539", "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_000352.4:c.338C>T" ], "proteinEffect": { "hgvs": "NP_000343.2:p.Ala113Val", "hgvsWellDefined": "NP_000343.2:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS006415" }, { "@id": "http://reg.genome.network/allele/PA2826733120", "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.1:c.338C>T" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Ala113Val", "hgvsWellDefined": "NP_001274103.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS023254" }, { "coordinates": [ { "allele": "T", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520331.1:c.338C>T" ], "proteinEffect": { "hgvs": "XP_011518633.1:p.Ala113Val", "hgvsWellDefined": "XP_011518633.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS087499" }, { "coordinates": [ { "allele": "T", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520332.1:c.338C>T" ], "proteinEffect": { "hgvs": "XP_011518634.1:p.Ala113Val", "hgvsWellDefined": "XP_011518634.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS087500" }, { "coordinates": [ { "allele": "T", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520334.1:c.338C>T" ], "proteinEffect": { "hgvs": "XP_011518636.1:p.Ala113Val", "hgvsWellDefined": "XP_011518636.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS087502" }, { "coordinates": [ { "allele": "T", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930890.1:n.401C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127017" }, { "coordinates": [ { "allele": "T", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930891.1:n.401C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127018" }, { "coordinates": [ { "allele": "T", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930892.1:n.401C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127019" }, { "coordinates": [ { "allele": "T", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930893.1:n.401C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127020" }, { "@id": "http://reg.genome.network/allele/PA2827603092", "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351295.1:c.338C>T" ], "proteinEffect": { "hgvs": "NP_001338224.1:p.Ala113Val", "hgvsWellDefined": "NP_001338224.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS520088" }, { "@id": "http://reg.genome.network/allele/PA2827603940", "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351296.1:c.338C>T" ], "proteinEffect": { "hgvs": "NP_001338225.1:p.Ala113Val", "hgvsWellDefined": "NP_001338225.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS520089" }, { "@id": "http://reg.genome.network/allele/PA2573071064", "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351297.1:c.338C>T" ], "proteinEffect": { "hgvs": "NP_001338226.1:p.Ala113Val", "hgvsWellDefined": "NP_001338226.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS520090" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NR_147094.1:n.407C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530635" }, { "coordinates": [ { "allele": "T", "end": 410, "referenceAllele": "C", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018197.2:c.338C>T" ], "proteinEffect": { "hgvs": "XP_016873686.1:p.Ala113Val", "hgvsWellDefined": "XP_016873686.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS570195" }, { "coordinates": [ { "allele": "T", "end": 409, "referenceAllele": "C", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018199.1:c.338C>T" ], "proteinEffect": { "hgvs": "XP_016873688.1:p.Ala113Val", "hgvsWellDefined": "XP_016873688.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS570196" }, { "coordinates": [ { "allele": "T", "end": 410, "referenceAllele": "C", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018201.2:c.338C>T" ], "proteinEffect": { "hgvs": "XP_016873690.1:p.Ala113Val", "hgvsWellDefined": "XP_016873690.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS570197" }, { "coordinates": [ { "allele": "T", "end": 188, "referenceAllele": "C", "start": 187 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018202.1:c.-1180C>T" ], "proteinEffect": { "hgvs": "XP_016873691.1:n.-1180C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS570198" }, { "coordinates": [ { "allele": "T", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_024448668.1:c.-2306C>T" ], "proteinEffect": { "hgvs": "XP_024304436.1:n.-2306C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS582236" }, { "coordinates": [ { "allele": "T", "end": 410, "referenceAllele": "C", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_001747945.2:n.410C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596022" }, { "coordinates": [ { "allele": "T", "end": 410, "referenceAllele": "C", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_001747946.2:n.410C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596023" }, { "coordinates": [ { "allele": "T", "end": 410, "referenceAllele": "C", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_002957189.1:n.410C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603325" }, { "@id": "http://reg.genome.network/allele/PA2825147539", "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_000352.6:c.338C>T" ], "proteinEffect": { "hgvs": "NP_000343.2:p.Ala113Val", "hgvsWellDefined": "NP_000343.2:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS674803", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389817.8:c.338C>T" }, "RefSeq": { "hgvs": "NM_000352.6:c.338C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374467.4:p.Ala113Val" }, "RefSeq": { "hgvs": "NP_000343.2:p.Ala113Val" } } } }, { "@id": "http://reg.genome.network/allele/PA2826733120", "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.2:c.338C>T" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Ala113Val", "hgvsWellDefined": "NP_001274103.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS682368" }, { "@id": "http://reg.genome.network/allele/PA2827603092", "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351295.2:c.338C>T" ], "proteinEffect": { "hgvs": "NP_001338224.1:p.Ala113Val", "hgvsWellDefined": "NP_001338224.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS688742" }, { "@id": "http://reg.genome.network/allele/PA2827603940", "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351296.2:c.338C>T" ], "proteinEffect": { "hgvs": "NP_001338225.1:p.Ala113Val", "hgvsWellDefined": "NP_001338225.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS688743" }, { "@id": "http://reg.genome.network/allele/PA2573071064", "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351297.2:c.338C>T" ], "proteinEffect": { "hgvs": "NP_001338226.1:p.Ala113Val", "hgvsWellDefined": "NP_001338226.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS688744" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NR_147094.2:n.407C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704497" }, { "@id": "http://reg.genome.network/allele/PA2826733120", "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.3:c.338C>T" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Ala113Val", "hgvsWellDefined": "NP_001274103.1:p.Ala113Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS716342" } ], "type": "nucleotide" }