{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA379786666", "communityStandardTitle": [ "NM_000352.6(ABCC8):c.4259G>A (p.Arg1420His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2741092[alleleid]", "alleleId": 2741092, "preferredName": "NM_000352.6(ABCC8):c.4259G>A (p.Arg1420His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2576195", "RCV": [ "RCV003322256", "RCV003466058" ], "variationId": 2576195 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.17417205C>T?assembly=hg19", "id": "chr11:g.17417205C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.17395658C>T?assembly=hg38", "id": "chr11:g.17395658C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1272388614", "rs": 1272388614 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-17417205-C-T?dataset=gnomad_r2_1", "id": "11-17417205-C-T", "variant": "11:17417205 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-17395658-C-T?dataset=gnomad_r3", "id": "11-17395658-C-T", "variant": "11:17395658 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-17395658-C-T?dataset=gnomad_r4", "id": "11-17395658-C-T", "variant": "11:17395658 C / T" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 17395658, "referenceAllele": "C", "start": 17395657 } ], "hgvs": [ "NC_000011.10:g.17395658C>T", "CM000673.2:g.17395658C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 17417205, "referenceAllele": "C", "start": 17417204 } ], "hgvs": [ "NC_000011.9:g.17417205C>T", "CM000673.1:g.17417205C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 17373781, "referenceAllele": "C", "start": 17373780 } ], "hgvs": [ "NC_000011.8:g.17373781C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 86245, "referenceAllele": "G", "start": 86244 } ], "hgvs": [ "NG_008867.1:g.86245G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001262" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3860, "referenceAllele": "G", "start": 3859 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000524561.2:n.3860G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825694" }, { "coordinates": [ { "allele": "A", "end": 850, "referenceAllele": "G", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000528374.2:c.850G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825751" }, { "coordinates": [ { "allele": "A", "end": 2598, "referenceAllele": "G", "start": 2597 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000529967.6:n.2598G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825780" }, { "coordinates": [ { "allele": "A", "end": 3492, "referenceAllele": "G", "start": 3491 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000532220.2:n.3492G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825814" }, { "coordinates": [ { "allele": "A", "end": 5592, "referenceAllele": "G", "start": 5591 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642611.2:n.5592G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS826721" }, { "coordinates": [ { "allele": "A", "end": 835, "referenceAllele": "G", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644057.2:n.835G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS826728" }, { "coordinates": [ { "allele": "A", "end": 1758, "referenceAllele": "G", "start": 1757 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645004.2:n.1758G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS826739" }, { "coordinates": [ { "allele": "A", "end": 4421, "referenceAllele": "G", "start": 4420 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682051.1:n.4421G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827049" }, { "coordinates": [ { "allele": "A", "end": 4474, "referenceAllele": "G", "start": 4473 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682110.1:n.4474G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827107" }, { "coordinates": [ { "allele": "A", "end": 4194, "referenceAllele": "G", "start": 4193 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682140.1:c.*45G>A" ], "proteinEffect": { "hgvs": "ENSP00000507829.1:n.*45G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827137" }, { "coordinates": [ { "allele": "A", "end": 5564, "referenceAllele": "G", "start": 5563 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682185.1:n.5564G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827182" }, { "coordinates": [ { "allele": "A", "end": 4179, "referenceAllele": "G", "start": 4178 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682204.1:c.*2397G>A" ], "proteinEffect": { "hgvs": "ENSP00000507094.1:n.*2397G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827200" }, { "coordinates": [ { "allele": "A", "end": 4841, "referenceAllele": "G", "start": 4840 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682215.1:n.4841G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827211" }, { "coordinates": [ { "allele": "A", "end": 4433, "referenceAllele": "G", "start": 4432 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682288.1:c.*2690G>A" ], "proteinEffect": { "hgvs": "ENSP00000507506.1:n.*2690G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827283" }, { "coordinates": [ { "allele": "A", "end": 4694, "referenceAllele": "G", "start": 4693 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682442.1:n.4694G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827432" }, { "coordinates": [ { "allele": "A", "end": 4551, "referenceAllele": "G", "start": 4550 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682528.1:n.4551G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827518" }, { "coordinates": [ { "allele": "A", "end": 4418, "referenceAllele": "G", "start": 4417 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682673.1:n.4418G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827662" }, { "coordinates": [ { "allele": "A", "end": 4879, "referenceAllele": "G", "start": 4878 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682805.1:n.4879G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827794" }, { "coordinates": [ { "allele": "A", "end": 4167, "referenceAllele": "G", "start": 4166 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682965.1:c.*681G>A" ], "proteinEffect": { "hgvs": "ENSP00000508229.1:n.*681G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827953" }, { "coordinates": [ { "allele": "A", "end": 5558, "referenceAllele": "G", "start": 5557 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683093.1:n.5558G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828078" }, { "coordinates": [ { "allele": "A", "end": 4238, "referenceAllele": "G", "start": 4237 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683136.1:c.4142G>A" ], "proteinEffect": { "hgvs": "ENSP00000507768.1:p.Arg1381His", "hgvsWellDefined": "ENSP00000507768.1:p.Arg1381His" }, "referenceSequence": "http://reg.genome.network/refseq/RS828121" }, { "coordinates": [ { "allele": "A", "end": 4516, "referenceAllele": "G", "start": 4515 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683153.1:n.4516G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828138" }, { "coordinates": [ { "allele": "A", "end": 4576, "referenceAllele": "G", "start": 4575 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683365.1:n.4576G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828345" }, { "coordinates": [ { "allele": "A", "end": 4474, "referenceAllele": "G", "start": 4473 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683377.1:n.4474G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828356" }, { "coordinates": [ { "allele": "A", "end": 4417, "referenceAllele": "G", "start": 4416 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683456.1:c.*1396G>A" ], "proteinEffect": { "hgvs": "ENSP00000508318.1:n.*1396G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828432" }, { "coordinates": [ { "allele": "A", "end": 4474, "referenceAllele": "G", "start": 4473 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683522.1:n.4474G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828496" }, { "coordinates": [ { "allele": "A", "end": 4406, "referenceAllele": "G", "start": 4405 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683562.1:c.*2428G>A" ], "proteinEffect": { "hgvs": "ENSP00000508265.1:n.*2428G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828535" }, { "coordinates": [ { "allele": "A", "end": 6039, "referenceAllele": "G", "start": 6038 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683693.1:n.6039G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828664" }, { "coordinates": [ { "allele": "A", "end": 4284, "referenceAllele": "G", "start": 4283 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683725.1:c.4259G>A" ], "proteinEffect": { "hgvs": "ENSP00000507496.1:p.Arg1420His", "hgvsWellDefined": "ENSP00000507496.1:p.Arg1420His" }, "referenceSequence": "http://reg.genome.network/refseq/RS828696" }, { "coordinates": [ { "allele": "A", "end": 4469, "referenceAllele": "G", "start": 4468 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684010.1:n.4469G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828972" }, { "coordinates": [ { "allele": "A", "end": 5459, "referenceAllele": "G", "start": 5458 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684157.1:n.5459G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829115" }, { "coordinates": [ { "allele": "A", "end": 4377, "referenceAllele": "G", "start": 4376 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684253.1:n.4377G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829210" }, { "coordinates": [ { "allele": "A", "end": 4370, "referenceAllele": "G", "start": 4369 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684288.1:c.*2431G>A" ], "proteinEffect": { "hgvs": "ENSP00000507143.1:n.*2431G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829244" }, { "coordinates": [ { "allele": "A", "end": 3906, "referenceAllele": "G", "start": 3905 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684313.1:n.3906G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829269" }, { "coordinates": [ { "allele": "A", "end": 4547, "referenceAllele": "G", "start": 4546 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684332.1:n.4547G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829287" }, { "coordinates": [ { "allele": "A", "end": 4580, "referenceAllele": "G", "start": 4579 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684371.1:n.4580G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829326" }, { "coordinates": [ { "allele": "A", "end": 5502, "referenceAllele": "G", "start": 5501 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684404.1:n.5502G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829359" }, { "coordinates": [ { "allele": "A", "end": 4698, "referenceAllele": "G", "start": 4697 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684442.1:n.4698G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829396" }, { "coordinates": [ { "allele": "A", "end": 4216, "referenceAllele": "G", "start": 4215 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684555.1:c.*2471G>A" ], "proteinEffect": { "hgvs": "ENSP00000507705.1:n.*2471G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829508" }, { "coordinates": [ { "allele": "A", "end": 4141, "referenceAllele": "G", "start": 4140 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684571.1:c.4100G>A" ], "proteinEffect": { "hgvs": "ENSP00000506935.1:p.Arg1367His", "hgvsWellDefined": "ENSP00000506935.1:p.Arg1367His" }, "referenceSequence": "http://reg.genome.network/refseq/RS829524" }, { "coordinates": [ { "allele": "A", "end": 4193, "referenceAllele": "G", "start": 4192 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684593.1:c.*3964G>A" ], "proteinEffect": { "hgvs": "ENSP00000507005.1:n.*3964G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829545" }, { "coordinates": [ { "allele": "A", "end": 4398, "referenceAllele": "G", "start": 4397 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684711.1:c.*2655G>A" ], "proteinEffect": { "hgvs": "ENSP00000506841.1:n.*2655G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829662" }, { "coordinates": [ { "allele": "A", "end": 4331, "referenceAllele": "G", "start": 4330 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000302539.9:c.4262G>A" ], "proteinEffect": { "hgvs": "ENSP00000303960.4:p.Arg1421His", "hgvsWellDefined": "ENSP00000303960.4:p.Arg1421His" }, "referenceSequence": "http://reg.genome.network/refseq/RS744957" }, { "coordinates": [ { "allele": "A", "end": 4328, "referenceAllele": "G", "start": 4327 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000389817.8:c.4259G>A" ], "proteinEffect": { "hgvs": "ENSP00000374467.4:p.Arg1420His", "hgvsWellDefined": "ENSP00000374467.4:p.Arg1420His" }, "referenceSequence": "http://reg.genome.network/refseq/RS752843", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389817.8:c.4259G>A" }, "RefSeq": { "hgvs": "NM_000352.6:c.4259G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374467.4:p.Arg1420His" }, "RefSeq": { "hgvs": "NP_000343.2:p.Arg1420His" } } } }, { "coordinates": [ { "allele": "A", "end": 4291, "referenceAllele": "G", "start": 4290 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642271.1:c.4256G>A" ], "proteinEffect": { "hgvs": "ENSP00000493749.1:p.Arg1419His", "hgvsWellDefined": "ENSP00000493749.1:p.Arg1419His" }, "referenceSequence": "http://reg.genome.network/refseq/RS766651" }, { "coordinates": [ { "allele": "A", "end": 2313, "referenceAllele": "G", "start": 2312 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642579.1:c.2313G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766821" }, { "coordinates": [ { "allele": "A", "end": 5477, "referenceAllele": "G", "start": 5476 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642611.1:n.5477G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766837" }, { "coordinates": [ { "allele": "A", "end": 4041, "referenceAllele": "G", "start": 4040 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642902.1:c.4041G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766980" }, { "coordinates": [ { "allele": "A", "end": 4328, "referenceAllele": "G", "start": 4327 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000643260.1:c.4259G>A" ], "proteinEffect": { "hgvs": "ENSP00000494450.1:p.Arg1420His", "hgvsWellDefined": "ENSP00000494450.1:p.Arg1420His" }, "referenceSequence": "http://reg.genome.network/refseq/RS767182" }, { "coordinates": [ { "allele": "A", "end": 4465, "referenceAllele": "G", "start": 4464 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000643562.1:c.*2381G>A" ], "proteinEffect": { "hgvs": "ENSP00000496124.1:n.*2381G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767346" }, { "coordinates": [ { "allele": "A", "end": 2899, "referenceAllele": "G", "start": 2898 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000643925.1:c.2899G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767546" }, { "coordinates": [ { "allele": "A", "end": 336, "referenceAllele": "G", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644057.1:n.336G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767610" }, { "coordinates": [ { "allele": "A", "end": 5388, "referenceAllele": "G", "start": 5387 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644484.1:c.*3645G>A" ], "proteinEffect": { "hgvs": "ENSP00000493558.1:n.*3645G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767838" }, { "coordinates": [ { "allele": "A", "end": 4387, "referenceAllele": "G", "start": 4386 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644675.1:c.*2431G>A" ], "proteinEffect": { "hgvs": "ENSP00000494567.1:n.*2431G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767931" }, { "coordinates": [ { "allele": "A", "end": 4969, "endIntronDirection": "+", "endIntronOffset": 606, "referenceAllele": "G", "start": 4969, "startIntronDirection": "+", "startIntronOffset": 605 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644757.1:c.*3202+606G>A" ], "proteinEffect": { "hgvs": "ENSP00000495085.1:n.*3202+606G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767980" }, { "coordinates": [ { "allele": "A", "end": 4356, "referenceAllele": "G", "start": 4355 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644772.1:c.4325G>A" ], "proteinEffect": { "hgvs": "ENSP00000494321.1:p.Arg1442His", "hgvsWellDefined": "ENSP00000494321.1:p.Arg1442His" }, "referenceSequence": "http://reg.genome.network/refseq/RS767987" }, { "coordinates": [ { "allele": "A", "end": 1952, "referenceAllele": "G", "start": 1951 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645004.1:n.1952G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768115" }, { "coordinates": [ { "allele": "A", "end": 3458, "referenceAllele": "G", "start": 3457 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645076.1:c.3458G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768157" }, { "coordinates": [ { "allele": "A", "end": 1447, "referenceAllele": "G", "start": 1446 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645417.1:c.1447G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768340" }, { "coordinates": [ { "allele": "A", "end": 5047, "endIntronDirection": "-", "endIntronOffset": 19, "referenceAllele": "G", "start": 5047, "startIntronDirection": "-", "startIntronOffset": 20 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645744.1:c.*3964-20G>A" ], "proteinEffect": { "hgvs": "ENSP00000494564.1:n.*3964-20G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768524" }, { "coordinates": [ { "allele": "A", "end": 4680, "referenceAllele": "G", "start": 4679 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645760.1:c.4680G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768531" }, { "coordinates": [ { "allele": "A", "end": 4553, "referenceAllele": "G", "start": 4552 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645884.1:c.*1542G>A" ], "proteinEffect": { "hgvs": "ENSP00000495516.1:n.*1542G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768584" }, { "coordinates": [ { "allele": "A", "end": 4082, "endIntronDirection": "-", "endIntronOffset": 19, "referenceAllele": "G", "start": 4082, "startIntronDirection": "-", "startIntronOffset": 20 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646003.1:c.*2301-20G>A" ], "proteinEffect": { "hgvs": "ENSP00000495259.1:n.*2301-20G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768646" }, { "coordinates": [ { "allele": "A", "end": 4577, "referenceAllele": "G", "start": 4576 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646207.1:c.*3096G>A" ], "proteinEffect": { "hgvs": "ENSP00000495025.1:n.*3096G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768754" }, { "coordinates": [ { "allele": "A", "end": 5401, "referenceAllele": "G", "start": 5400 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646276.1:c.*3663G>A" ], "proteinEffect": { "hgvs": "ENSP00000496070.1:n.*3663G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768789" }, { "coordinates": [ { "allele": "A", "end": 3565, "referenceAllele": "G", "start": 3564 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646592.1:c.3565G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768960" }, { "coordinates": [ { "allele": "A", "end": 4294, "referenceAllele": "G", "start": 4293 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646902.1:c.4226G>A" ], "proteinEffect": { "hgvs": "ENSP00000494101.1:p.Arg1409His", "hgvsWellDefined": "ENSP00000494101.1:p.Arg1409His" }, "referenceSequence": "http://reg.genome.network/refseq/RS769127" }, { "coordinates": [ { "allele": "A", "end": 4536, "referenceAllele": "G", "start": 4535 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646993.1:c.*2801G>A" ], "proteinEffect": { "hgvs": "ENSP00000493720.1:n.*2801G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769179" }, { "coordinates": [ { "allele": "A", "end": 4265, "referenceAllele": "G", "start": 4264 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647013.1:c.4265G>A" ], "proteinEffect": { "hgvs": "ENSP00000496741.1:n.4265G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769189" }, { "coordinates": [ { "allele": "A", "end": 4078, "referenceAllele": "G", "start": 4077 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647015.1:c.4010G>A" ], "proteinEffect": { "hgvs": "ENSP00000495389.1:p.Arg1337His", "hgvsWellDefined": "ENSP00000495389.1:p.Arg1337His" }, "referenceSequence": "http://reg.genome.network/refseq/RS769191" }, { "coordinates": [ { "allele": "A", "end": 5990, "referenceAllele": "G", "start": 5989 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647086.1:c.*3845G>A" ], "proteinEffect": { "hgvs": "ENSP00000493677.1:n.*3845G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769226" }, { "coordinates": [ { "allele": "A", "end": 4355, "referenceAllele": "G", "start": 4354 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647158.1:c.*2546G>A" ], "proteinEffect": { "hgvs": "ENSP00000495744.1:n.*2546G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769267" }, { "coordinates": [ { "allele": "A", "end": 4331, "referenceAllele": "G", "start": 4330 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000302539.8:c.4262G>A" ], "proteinEffect": { "hgvs": "ENSP00000303960.4:p.Arg1421His", "hgvsWellDefined": "ENSP00000303960.4:p.Arg1421His" }, "referenceSequence": "http://reg.genome.network/refseq/RS255198" }, { "coordinates": [ { "allele": "A", "end": 4328, "referenceAllele": "G", "start": 4327 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000389817.7:c.4259G>A" ], "proteinEffect": { "hgvs": "ENSP00000374467.3:p.Arg1420His", "hgvsWellDefined": "ENSP00000374467.3:p.Arg1420His" }, "referenceSequence": "http://reg.genome.network/refseq/RS274297" }, { "coordinates": [ { "allele": "A", "end": 258, "referenceAllele": "G", "start": 257 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000525022.1:n.258G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS351100" }, { "coordinates": [ { "allele": "A", "end": 123, "referenceAllele": "G", "start": 122 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000526037.5:n.123G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS351963" }, { "coordinates": [ { "allele": "A", "end": 66, "endIntronDirection": "-", "endIntronOffset": 19, "referenceAllele": "G", "start": 66, "startIntronDirection": "-", "startIntronOffset": 20 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000526168.5:c.67-20G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS352076" }, { "coordinates": [ { "allele": "A", "end": 95, "referenceAllele": "G", "start": 94 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000531642.5:c.95G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS356705" }, { "@id": "http://reg.genome.network/allele/PA2825148797", "coordinates": [ { "allele": "A", "end": 4328, "referenceAllele": "G", "start": 4327 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_000352.4:c.4259G>A" ], "proteinEffect": { "hgvs": "NP_000343.2:p.Arg1420His", "hgvsWellDefined": "NP_000343.2:p.Arg1420His" }, "referenceSequence": "http://reg.genome.network/refseq/RS006415" }, { "@id": "http://reg.genome.network/allele/PA2826734023", "coordinates": [ { "allele": "A", "end": 4331, "referenceAllele": "G", "start": 4330 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.1:c.4262G>A" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Arg1421His", "hgvsWellDefined": "NP_001274103.1:p.Arg1421His" }, "referenceSequence": "http://reg.genome.network/refseq/RS023254" }, { "coordinates": [ { "allele": "A", "end": 4322, "referenceAllele": "G", "start": 4321 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520331.1:c.4259G>A" ], "proteinEffect": { "hgvs": "XP_011518633.1:p.Arg1420His", "hgvsWellDefined": "XP_011518633.1:p.Arg1420His" }, "referenceSequence": "http://reg.genome.network/refseq/RS087499" }, { "coordinates": [ { "allele": "A", "end": 4325, "referenceAllele": "G", "start": 4324 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520332.1:c.4262G>A" ], "proteinEffect": { "hgvs": "XP_011518634.1:p.Arg1421His", "hgvsWellDefined": "XP_011518634.1:p.Arg1421His" }, "referenceSequence": "http://reg.genome.network/refseq/RS087500" }, { "coordinates": [ { "allele": "A", "end": 2881, "referenceAllele": "G", "start": 2880 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520333.1:c.2759G>A" ], "proteinEffect": { "hgvs": "XP_011518635.1:p.Arg920His", "hgvsWellDefined": "XP_011518635.1:p.Arg920His" }, "referenceSequence": "http://reg.genome.network/refseq/RS087501" }, { "coordinates": [ { "allele": "A", "end": 4325, "referenceAllele": "G", "start": 4324 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930890.1:n.4325G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127017" }, { "@id": "http://reg.genome.network/allele/PA2741864980", "coordinates": [ { "allele": "A", "end": 4394, "referenceAllele": "G", "start": 4393 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351295.1:c.4325G>A" ], "proteinEffect": { "hgvs": "NP_001338224.1:p.Arg1442His", "hgvsWellDefined": "NP_001338224.1:p.Arg1442His" }, "referenceSequence": "http://reg.genome.network/refseq/RS520088" }, { "@id": "http://reg.genome.network/allele/PA2827605005", "coordinates": [ { "allele": "A", "end": 4328, "referenceAllele": "G", "start": 4327 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351296.1:c.4259G>A" ], "proteinEffect": { "hgvs": "NP_001338225.1:p.Arg1420His", "hgvsWellDefined": "NP_001338225.1:p.Arg1420His" }, "referenceSequence": "http://reg.genome.network/refseq/RS520089" }, { "@id": "http://reg.genome.network/allele/PA2827606228", "coordinates": [ { "allele": "A", "end": 4325, "referenceAllele": "G", "start": 4324 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351297.1:c.4256G>A" ], "proteinEffect": { "hgvs": "NP_001338226.1:p.Arg1419His", "hgvsWellDefined": "NP_001338226.1:p.Arg1419His" }, "referenceSequence": "http://reg.genome.network/refseq/RS520090" }, { "coordinates": [ { "allele": "A", "end": 4554, "referenceAllele": "G", "start": 4553 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NR_147094.1:n.4554G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530635" }, { "coordinates": [ { "allele": "A", "end": 4400, "referenceAllele": "G", "start": 4399 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018197.2:c.4328G>A" ], "proteinEffect": { "hgvs": "XP_016873686.1:p.Arg1443His", "hgvsWellDefined": "XP_016873686.1:p.Arg1443His" }, "referenceSequence": "http://reg.genome.network/refseq/RS570195" }, { "coordinates": [ { "allele": "A", "end": 4396, "referenceAllele": "G", "start": 4395 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018199.1:c.4325G>A" ], "proteinEffect": { "hgvs": "XP_016873688.1:p.Arg1442His", "hgvsWellDefined": "XP_016873688.1:p.Arg1442His" }, "referenceSequence": "http://reg.genome.network/refseq/RS570196" }, { "coordinates": [ { "allele": "A", "end": 4400, "referenceAllele": "G", "start": 4399 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018201.2:c.4328G>A" ], "proteinEffect": { "hgvs": "XP_016873690.1:p.Arg1443His", "hgvsWellDefined": "XP_016873690.1:p.Arg1443His" }, "referenceSequence": "http://reg.genome.network/refseq/RS570197" }, { "coordinates": [ { "allele": "A", "end": 4192, "referenceAllele": "G", "start": 4191 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018202.1:c.2825G>A" ], "proteinEffect": { "hgvs": "XP_016873691.1:p.Arg942His", "hgvsWellDefined": "XP_016873691.1:p.Arg942His" }, "referenceSequence": "http://reg.genome.network/refseq/RS570198" }, { "coordinates": [ { "allele": "A", "end": 3304, "referenceAllele": "G", "start": 3303 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018204.1:c.2216G>A" ], "proteinEffect": { "hgvs": "XP_016873693.1:p.Arg739His", "hgvsWellDefined": "XP_016873693.1:p.Arg739His" }, "referenceSequence": "http://reg.genome.network/refseq/RS570199" }, { "coordinates": [ { "allele": "A", "end": 5343, "referenceAllele": "G", "start": 5342 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_024448668.1:c.2627G>A" ], "proteinEffect": { "hgvs": "XP_024304436.1:p.Arg876His", "hgvsWellDefined": "XP_024304436.1:p.Arg876His" }, "referenceSequence": "http://reg.genome.network/refseq/RS582236" }, { "coordinates": [ { "allele": "A", "end": 4400, "referenceAllele": "G", "start": 4399 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_001747945.2:n.4400G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596022" }, { "coordinates": [ { "allele": "A", "end": 4331, "referenceAllele": "G", "start": 4330 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_001747946.2:n.4331G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596023" }, { "coordinates": [ { "allele": "A", "end": 6114, "referenceAllele": "G", "start": 6113 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_002957189.1:n.6114G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS603325" }, { "@id": "http://reg.genome.network/allele/PA2825148797", "coordinates": [ { "allele": "A", "end": 4328, "referenceAllele": "G", "start": 4327 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_000352.6:c.4259G>A" ], "proteinEffect": { "hgvs": "NP_000343.2:p.Arg1420His", "hgvsWellDefined": "NP_000343.2:p.Arg1420His" }, "referenceSequence": "http://reg.genome.network/refseq/RS674803", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389817.8:c.4259G>A" }, "RefSeq": { "hgvs": "NM_000352.6:c.4259G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374467.4:p.Arg1420His" }, "RefSeq": { "hgvs": "NP_000343.2:p.Arg1420His" } } } }, { "@id": "http://reg.genome.network/allele/PA2826734023", "coordinates": [ { "allele": "A", "end": 4331, "referenceAllele": "G", "start": 4330 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.2:c.4262G>A" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Arg1421His", "hgvsWellDefined": "NP_001274103.1:p.Arg1421His" }, "referenceSequence": "http://reg.genome.network/refseq/RS682368" }, { "@id": "http://reg.genome.network/allele/PA2741864980", "coordinates": [ { "allele": "A", "end": 4394, "referenceAllele": "G", "start": 4393 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351295.2:c.4325G>A" ], "proteinEffect": { "hgvs": "NP_001338224.1:p.Arg1442His", "hgvsWellDefined": "NP_001338224.1:p.Arg1442His" }, "referenceSequence": "http://reg.genome.network/refseq/RS688742" }, { "@id": "http://reg.genome.network/allele/PA2827605005", "coordinates": [ { "allele": "A", "end": 4328, "referenceAllele": "G", "start": 4327 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351296.2:c.4259G>A" ], "proteinEffect": { "hgvs": "NP_001338225.1:p.Arg1420His", "hgvsWellDefined": "NP_001338225.1:p.Arg1420His" }, "referenceSequence": "http://reg.genome.network/refseq/RS688743" }, { "@id": "http://reg.genome.network/allele/PA2827606228", "coordinates": [ { "allele": "A", "end": 4325, "referenceAllele": "G", "start": 4324 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351297.2:c.4256G>A" ], "proteinEffect": { "hgvs": "NP_001338226.1:p.Arg1419His", "hgvsWellDefined": "NP_001338226.1:p.Arg1419His" }, "referenceSequence": "http://reg.genome.network/refseq/RS688744" }, { "coordinates": [ { "allele": "A", "end": 4554, "referenceAllele": "G", "start": 4553 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NR_147094.2:n.4554G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704497" }, { "@id": "http://reg.genome.network/allele/PA2826734023", "coordinates": [ { "allele": "A", "end": 4331, "referenceAllele": "G", "start": 4330 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.3:c.4262G>A" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Arg1421His", "hgvsWellDefined": "NP_001274103.1:p.Arg1421His" }, "referenceSequence": "http://reg.genome.network/refseq/RS716342" } ], "type": "nucleotide" }