{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA390303636", "communityStandardTitle": [ "NM_000021.4(PSEN1):c.326A>C (p.Lys109Thr)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.73637743A>C?assembly=hg19", "id": "chr14:g.73637743A>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.73171035A>C?assembly=hg38", "id": "chr14:g.73171035A>C" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "C", "end": 73171035, "referenceAllele": "A", "start": 73171034 } ], "hgvs": [ "NC_000014.9:g.73171035A>C", "CM000676.2:g.73171035A>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "C", "end": 73637743, "referenceAllele": "A", "start": 73637742 } ], "hgvs": [ "NC_000014.8:g.73637743A>C", "CM000676.1:g.73637743A>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "C", "end": 72707496, "referenceAllele": "A", "start": 72707495 } ], "hgvs": [ "NC_000014.7:g.72707496A>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "C", "end": 39565, "referenceAllele": "A", "start": 39564 } ], "hgvs": [ "NG_007386.2:g.39565A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS000560" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 723, "referenceAllele": "A", "start": 722 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000553447.7:c.*270A>C" ], "proteinEffect": { "hgvs": "ENSP00000514869.1:n.*270A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS905852" }, { "coordinates": [ { "allele": "C", "end": 630, "referenceAllele": "A", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000553599.6:c.314A>C" ], "proteinEffect": { "hgvs": "ENSP00000452477.2:p.Lys105Thr", "hgvsWellDefined": "ENSP00000452477.2:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS905856" }, { "coordinates": [ { "allele": "C", "end": 590, "referenceAllele": "A", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000554131.6:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000451915.2:p.Lys109Thr", "hgvsWellDefined": "ENSP00000451915.2:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS905859" }, { "coordinates": [ { "allele": "C", "end": 582, "referenceAllele": "A", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000555386.6:c.314A>C" ], "proteinEffect": { "hgvs": "ENSP00000450845.1:p.Lys105Thr", "hgvsWellDefined": "ENSP00000450845.1:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS905866" }, { "coordinates": [ { "allele": "C", "end": 770, "referenceAllele": "A", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000556011.6:c.*270A>C" ], "proteinEffect": { "hgvs": "ENSP00000451662.2:n.*270A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS905871" }, { "coordinates": [ { "allele": "C", "end": 752, "referenceAllele": "A", "start": 751 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000556066.2:n.752A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS905873" }, { "coordinates": [ { "allele": "C", "end": 593, "referenceAllele": "A", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000556951.6:c.314A>C" ], "proteinEffect": { "hgvs": "ENSP00000450551.2:p.Lys105Thr", "hgvsWellDefined": "ENSP00000450551.2:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS905881" }, { "coordinates": [ { "allele": "C", "end": 604, "referenceAllele": "A", "start": 603 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000557293.6:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000451880.2:p.Lys109Thr", "hgvsWellDefined": "ENSP00000451880.2:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS905886" }, { "coordinates": [ { "allele": "C", "end": 641, "referenceAllele": "A", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000559361.6:c.*270A>C" ], "proteinEffect": { "hgvs": "ENSP00000454156.1:n.*270A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS905908" }, { "coordinates": [ { "allele": "C", "end": 582, "referenceAllele": "A", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000697912.1:c.314A>C" ], "proteinEffect": { "hgvs": "ENSP00000513477.1:p.Lys105Thr", "hgvsWellDefined": "ENSP00000513477.1:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS909070" }, { "coordinates": [ { "allele": "C", "end": 580, "referenceAllele": "A", "start": 579 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000697913.1:n.580A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS909071" }, { "coordinates": [ { "allele": "C", "end": 538, "referenceAllele": "A", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000697914.1:n.538A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS909072" }, { "coordinates": [ { "allele": "C", "end": 442, "referenceAllele": "A", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700265.1:c.314A>C" ], "proteinEffect": { "hgvs": "ENSP00000514901.1:p.Lys105Thr", "hgvsWellDefined": "ENSP00000514901.1:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911092" }, { "coordinates": [ { "allele": "C", "end": 821, "referenceAllele": "A", "start": 820 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700266.1:c.*415A>C" ], "proteinEffect": { "hgvs": "ENSP00000514902.1:n.*415A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS911093" }, { "coordinates": [ { "allele": "C", "end": 483, "referenceAllele": "A", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700267.1:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000514903.1:p.Lys109Thr", "hgvsWellDefined": "ENSP00000514903.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911094" }, { "coordinates": [ { "allele": "C", "end": 602, "referenceAllele": "A", "start": 601 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700268.1:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000514904.1:p.Lys109Thr", "hgvsWellDefined": "ENSP00000514904.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911095" }, { "coordinates": [ { "allele": "C", "end": 642, "referenceAllele": "A", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700269.1:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000514905.1:p.Lys109Thr", "hgvsWellDefined": "ENSP00000514905.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911096" }, { "coordinates": [ { "allele": "C", "end": 582, "referenceAllele": "A", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700270.1:n.582A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS911097" }, { "coordinates": [ { "allele": "C", "end": 582, "referenceAllele": "A", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700271.1:c.314A>C" ], "proteinEffect": { "hgvs": "ENSP00000514906.1:p.Lys105Thr", "hgvsWellDefined": "ENSP00000514906.1:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911098" }, { "coordinates": [ { "allele": "C", "end": 720, "referenceAllele": "A", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700272.1:c.*270A>C" ], "proteinEffect": { "hgvs": "ENSP00000514907.1:n.*270A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS911099" }, { "coordinates": [ { "allele": "C", "end": 622, "referenceAllele": "A", "start": 621 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700273.1:c.314A>C" ], "proteinEffect": { "hgvs": "ENSP00000514908.1:p.Lys105Thr", "hgvsWellDefined": "ENSP00000514908.1:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911100" }, { "coordinates": [ { "allele": "C", "end": 592, "referenceAllele": "A", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700302.1:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000514929.1:p.Lys109Thr", "hgvsWellDefined": "ENSP00000514929.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911127" }, { "coordinates": [ { "allele": "C", "end": 580, "referenceAllele": "A", "start": 579 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700303.1:c.314A>C" ], "proteinEffect": { "hgvs": "ENSP00000514930.1:p.Lys105Thr", "hgvsWellDefined": "ENSP00000514930.1:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911128" }, { "coordinates": [ { "allele": "C", "end": 714, "referenceAllele": "A", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700304.1:c.*270A>C" ], "proteinEffect": { "hgvs": "ENSP00000514931.1:n.*270A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS911129" }, { "coordinates": [ { "allele": "C", "end": 572, "referenceAllele": "A", "start": 571 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700305.1:c.314A>C" ], "proteinEffect": { "hgvs": "ENSP00000514932.1:p.Lys105Thr", "hgvsWellDefined": "ENSP00000514932.1:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911130" }, { "coordinates": [ { "allele": "C", "end": 615, "referenceAllele": "A", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700306.1:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000514933.1:p.Lys109Thr", "hgvsWellDefined": "ENSP00000514933.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911131" }, { "coordinates": [ { "allele": "C", "end": 568, "referenceAllele": "A", "start": 567 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700307.1:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000514934.1:p.Lys109Thr", "hgvsWellDefined": "ENSP00000514934.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911132" }, { "coordinates": [ { "allele": "C", "end": 676, "referenceAllele": "A", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700308.1:c.*270A>C" ], "proteinEffect": { "hgvs": "ENSP00000514935.1:n.*270A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS911133" }, { "coordinates": [ { "allele": "C", "end": 761, "referenceAllele": "A", "start": 760 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700309.1:c.*415A>C" ], "proteinEffect": { "hgvs": "ENSP00000514936.1:n.*415A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS911134" }, { "coordinates": [ { "allele": "C", "end": 526, "referenceAllele": "A", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700310.1:c.314A>C" ], "proteinEffect": { "hgvs": "ENSP00000514937.1:p.Lys105Thr", "hgvsWellDefined": "ENSP00000514937.1:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911135" }, { "coordinates": [ { "allele": "C", "end": 579, "referenceAllele": "A", "start": 578 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700311.1:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000514938.1:p.Lys109Thr", "hgvsWellDefined": "ENSP00000514938.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911136" }, { "coordinates": [ { "allele": "C", "end": 438, "referenceAllele": "A", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700312.1:c.77A>C" ], "proteinEffect": { "hgvs": "ENSP00000514939.1:p.Lys26Thr", "hgvsWellDefined": "ENSP00000514939.1:p.Lys26Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911137" }, { "coordinates": [ { "allele": "C", "end": 563, "referenceAllele": "A", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700313.1:c.314A>C" ], "proteinEffect": { "hgvs": "ENSP00000514940.1:p.Lys105Thr", "hgvsWellDefined": "ENSP00000514940.1:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911138" }, { "coordinates": [ { "allele": "C", "end": 624, "referenceAllele": "A", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700314.1:c.*265A>C" ], "proteinEffect": { "hgvs": "ENSP00000514941.1:n.*265A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS911139" }, { "coordinates": [ { "allele": "C", "end": 538, "referenceAllele": "A", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700315.1:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000514942.1:p.Lys109Thr", "hgvsWellDefined": "ENSP00000514942.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911140" }, { "coordinates": [ { "allele": "C", "end": 630, "referenceAllele": "A", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700316.1:c.*106A>C" ], "proteinEffect": { "hgvs": "ENSP00000514943.1:n.*106A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS911141" }, { "coordinates": [ { "allele": "C", "end": 506, "referenceAllele": "A", "start": 505 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700317.1:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000514944.1:p.Lys109Thr", "hgvsWellDefined": "ENSP00000514944.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911142" }, { "coordinates": [ { "allele": "C", "end": 538, "referenceAllele": "A", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700318.1:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000514945.1:p.Lys109Thr", "hgvsWellDefined": "ENSP00000514945.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911143" }, { "coordinates": [ { "allele": "C", "end": 538, "referenceAllele": "A", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700319.1:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000514946.1:p.Lys109Thr", "hgvsWellDefined": "ENSP00000514946.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911144" }, { "coordinates": [ { "allele": "C", "end": 538, "referenceAllele": "A", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700320.1:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000514947.1:p.Lys109Thr", "hgvsWellDefined": "ENSP00000514947.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911145" }, { "coordinates": [ { "allele": "C", "end": 540, "referenceAllele": "A", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700321.1:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000514948.1:p.Lys109Thr", "hgvsWellDefined": "ENSP00000514948.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911146" }, { "coordinates": [ { "allele": "C", "end": 492, "referenceAllele": "A", "start": 491 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700322.1:c.314A>C" ], "proteinEffect": { "hgvs": "ENSP00000514949.1:p.Lys105Thr", "hgvsWellDefined": "ENSP00000514949.1:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911147" }, { "coordinates": [ { "allele": "C", "end": 582, "referenceAllele": "A", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700323.1:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000514950.1:p.Lys109Thr", "hgvsWellDefined": "ENSP00000514950.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911148" }, { "coordinates": [ { "allele": "C", "end": 544, "referenceAllele": "A", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700324.1:c.314A>C" ], "proteinEffect": { "hgvs": "ENSP00000514951.1:p.Lys105Thr", "hgvsWellDefined": "ENSP00000514951.1:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911149" }, { "coordinates": [ { "allele": "C", "end": 601, "referenceAllele": "A", "start": 600 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700375.1:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000514966.1:p.Lys109Thr", "hgvsWellDefined": "ENSP00000514966.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911167" }, { "coordinates": [ { "allele": "C", "end": 910, "referenceAllele": "A", "start": 909 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700376.1:n.910A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS911168" }, { "coordinates": [ { "allele": "C", "end": 922, "referenceAllele": "A", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700377.1:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000514967.1:p.Lys109Thr", "hgvsWellDefined": "ENSP00000514967.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911169" }, { "coordinates": [ { "allele": "C", "end": 922, "referenceAllele": "A", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700378.1:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000514968.1:p.Lys109Thr", "hgvsWellDefined": "ENSP00000514968.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911170" }, { "coordinates": [ { "allele": "C", "end": 724, "referenceAllele": "A", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700379.1:n.724A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS911171" }, { "coordinates": [ { "allele": "C", "end": 573, "referenceAllele": "A", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700388.1:n.573A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS911173" }, { "coordinates": [ { "allele": "C", "end": 726, "referenceAllele": "A", "start": 725 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700389.1:c.314A>C" ], "proteinEffect": { "hgvs": "ENSP00000514970.1:p.Lys105Thr", "hgvsWellDefined": "ENSP00000514970.1:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911174" }, { "coordinates": [ { "allele": "C", "end": 2037, "referenceAllele": "A", "start": 2036 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700390.1:n.2037A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS911175" }, { "coordinates": [ { "allele": "C", "end": 1209, "referenceAllele": "A", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700404.1:n.1209A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS911189" }, { "coordinates": [ { "allele": "C", "end": 591, "referenceAllele": "A", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700430.1:c.*270A>C" ], "proteinEffect": { "hgvs": "ENSP00000514985.1:n.*270A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS911211" }, { "coordinates": [ { "allele": "C", "end": 449, "referenceAllele": "A", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700431.1:c.314A>C" ], "proteinEffect": { "hgvs": "ENSP00000514986.1:p.Lys105Thr", "hgvsWellDefined": "ENSP00000514986.1:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911212" }, { "coordinates": [ { "allele": "C", "end": 683, "referenceAllele": "A", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700432.1:n.683A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS911213" }, { "coordinates": [ { "allele": "C", "end": 461, "referenceAllele": "A", "start": 460 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700433.1:n.461A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS911214" }, { "coordinates": [ { "allele": "C", "end": 579, "referenceAllele": "A", "start": 578 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700434.1:n.579A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS911215" }, { "coordinates": [ { "allele": "C", "end": 461, "referenceAllele": "A", "start": 460 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700435.1:n.461A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS911216" }, { "coordinates": [ { "allele": "C", "end": 461, "referenceAllele": "A", "start": 460 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700436.1:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000514987.1:p.Lys109Thr", "hgvsWellDefined": "ENSP00000514987.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911217" }, { "coordinates": [ { "allele": "C", "end": 453, "referenceAllele": "A", "start": 452 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700437.1:c.77A>C" ], "proteinEffect": { "hgvs": "ENSP00000514988.1:p.Lys26Thr", "hgvsWellDefined": "ENSP00000514988.1:p.Lys26Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911218" }, { "coordinates": [ { "allele": "C", "end": 461, "referenceAllele": "A", "start": 460 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700467.1:n.461A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS911227" }, { "coordinates": [ { "allele": "C", "end": 449, "referenceAllele": "A", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700468.1:c.314A>C" ], "proteinEffect": { "hgvs": "ENSP00000515001.1:p.Lys105Thr", "hgvsWellDefined": "ENSP00000515001.1:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911228" }, { "coordinates": [ { "allele": "C", "end": 455, "referenceAllele": "A", "start": 454 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700469.1:c.314A>C" ], "proteinEffect": { "hgvs": "ENSP00000515002.1:p.Lys105Thr", "hgvsWellDefined": "ENSP00000515002.1:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911229" }, { "coordinates": [ { "allele": "C", "end": 538, "referenceAllele": "A", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000324501.10:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000326366.5:p.Lys109Thr", "hgvsWellDefined": "ENSP00000326366.5:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS746639", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324501.10:c.326A>C" }, "RefSeq": { "hgvs": "NM_000021.4:c.326A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326366.5:p.Lys109Thr" }, "RefSeq": { "hgvs": "NP_000012.1:p.Lys109Thr" } } } }, { "coordinates": [ { "allele": "C", "end": 598, "referenceAllele": "A", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000324501.9:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000326366.5:p.Lys109Thr", "hgvsWellDefined": "ENSP00000326366.5:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS258358" }, { "coordinates": [ { "allele": "C", "end": 586, "referenceAllele": "A", "start": 585 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000357710.8:c.314A>C" ], "proteinEffect": { "hgvs": "ENSP00000350342.4:p.Lys105Thr", "hgvsWellDefined": "ENSP00000350342.4:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS264203" }, { "coordinates": [ { "allele": "C", "end": 598, "referenceAllele": "A", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000394157.7:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000377712.3:p.Lys109Thr", "hgvsWellDefined": "ENSP00000377712.3:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS276015" }, { "coordinates": [ { "allele": "C", "end": 856, "referenceAllele": "A", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000394164.5:c.314A>C" ], "proteinEffect": { "hgvs": "ENSP00000377719.1:p.Lys105Thr", "hgvsWellDefined": "ENSP00000377719.1:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS276020" }, { "coordinates": [ { "allele": "C", "end": 1872, "referenceAllele": "A", "start": 1871 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000406768.1:c.50A>C" ], "proteinEffect": { "hgvs": "ENSP00000385948.1:p.Lys17Thr", "hgvsWellDefined": "ENSP00000385948.1:p.Lys17Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS280729" }, { "coordinates": [ { "allele": "C", "end": 585, "referenceAllele": "A", "start": 584 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000553719.5:c.314A>C" ], "proteinEffect": { "hgvs": "ENSP00000451674.1:p.Lys105Thr", "hgvsWellDefined": "ENSP00000451674.1:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS370080" }, { "coordinates": [ { "allele": "C", "end": 326, "referenceAllele": "A", "start": 325 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000553855.5:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000452242.1:p.Lys109Thr", "hgvsWellDefined": "ENSP00000452242.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS370182" }, { "coordinates": [ { "allele": "C", "end": 590, "referenceAllele": "A", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000554131.5:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000451915.1:p.Lys109Thr", "hgvsWellDefined": "ENSP00000451915.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS370399" }, { "coordinates": [ { "allele": "C", "end": 613, "referenceAllele": "A", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000555254.5:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000450652.1:p.Lys109Thr", "hgvsWellDefined": "ENSP00000450652.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS371296" }, { "coordinates": [ { "allele": "C", "end": 314, "referenceAllele": "A", "start": 313 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000555386.5:c.314A>C" ], "proteinEffect": { "hgvs": "ENSP00000450845.1:p.Lys105Thr", "hgvsWellDefined": "ENSP00000450845.1:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS371393" }, { "coordinates": [ { "allele": "C", "end": 480, "referenceAllele": "A", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000557356.5:c.314A>C" ], "proteinEffect": { "hgvs": "ENSP00000451498.1:p.Lys105Thr", "hgvsWellDefined": "ENSP00000451498.1:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS372957" }, { "coordinates": [ { "allele": "C", "end": 326, "referenceAllele": "A", "start": 325 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000557511.5:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000451429.1:p.Lys109Thr", "hgvsWellDefined": "ENSP00000451429.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS373091" }, { "coordinates": [ { "allele": "C", "end": 641, "referenceAllele": "A", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000559361.5:c.*270A>C" ], "proteinEffect": { "hgvs": "ENSP00000454156.1:n.*270A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS374522" }, { "coordinates": [ { "allele": "C", "end": 684, "referenceAllele": "A", "start": 683 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000560005.6:c.314A>C" ], "proteinEffect": { "hgvs": "ENSP00000453466.1:p.Lys105Thr", "hgvsWellDefined": "ENSP00000453466.1:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS375024" }, { "coordinates": [ { "allele": "C", "end": 610, "referenceAllele": "A", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "NM_000021.3:c.326A>C" ], "proteinEffect": { "hgvs": "NP_000012.1:p.Lys109Thr", "hgvsWellDefined": "NP_000012.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006086" }, { "coordinates": [ { "allele": "C", "end": 598, "referenceAllele": "A", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "NM_007318.2:c.314A>C" ], "proteinEffect": { "hgvs": "NP_015557.2:p.Lys105Thr", "hgvsWellDefined": "NP_015557.2:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS032224" }, { "coordinates": [ { "allele": "C", "end": 604, "referenceAllele": "A", "start": 603 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_005267864.1:c.326A>C" ], "proteinEffect": { "hgvs": "XP_005267921.1:p.Lys109Thr", "hgvsWellDefined": "XP_005267921.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS065537" }, { "coordinates": [ { "allele": "C", "end": 593, "referenceAllele": "A", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_005267866.1:c.314A>C" ], "proteinEffect": { "hgvs": "XP_005267923.1:p.Lys105Thr", "hgvsWellDefined": "XP_005267923.1:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS065538" }, { "coordinates": [ { "allele": "C", "end": 502, "referenceAllele": "A", "start": 501 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536971.1:c.326A>C" ], "proteinEffect": { "hgvs": "XP_011535273.1:p.Lys109Thr", "hgvsWellDefined": "XP_011535273.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS103942" }, { "coordinates": [ { "allele": "C", "end": 866, "referenceAllele": "A", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536972.1:c.326A>C" ], "proteinEffect": { "hgvs": "XP_011535274.1:p.Lys109Thr", "hgvsWellDefined": "XP_011535274.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS103943" }, { "coordinates": [ { "allele": "C", "end": 854, "referenceAllele": "A", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536973.1:c.314A>C" ], "proteinEffect": { "hgvs": "XP_011535275.1:p.Lys105Thr", "hgvsWellDefined": "XP_011535275.1:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS103944" }, { "coordinates": [ { "allele": "C", "end": 495, "referenceAllele": "A", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536974.1:c.314A>C" ], "proteinEffect": { "hgvs": "XP_011535276.1:p.Lys105Thr", "hgvsWellDefined": "XP_011535276.1:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS103945" }, { "coordinates": [ { "allele": "C", "end": 596, "referenceAllele": "A", "start": 595 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_005267864.3:c.326A>C" ], "proteinEffect": { "hgvs": "XP_005267921.1:p.Lys109Thr", "hgvsWellDefined": "XP_005267921.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS536476" }, { "coordinates": [ { "allele": "C", "end": 593, "referenceAllele": "A", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_005267866.2:c.314A>C" ], "proteinEffect": { "hgvs": "XP_005267923.1:p.Lys105Thr", "hgvsWellDefined": "XP_005267923.1:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS536477" }, { "coordinates": [ { "allele": "C", "end": 866, "referenceAllele": "A", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536972.2:c.326A>C" ], "proteinEffect": { "hgvs": "XP_011535274.1:p.Lys109Thr", "hgvsWellDefined": "XP_011535274.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS552699" }, { "coordinates": [ { "allele": "C", "end": 854, "referenceAllele": "A", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536973.2:c.314A>C" ], "proteinEffect": { "hgvs": "XP_011535275.1:p.Lys105Thr", "hgvsWellDefined": "XP_011535275.1:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS552700" }, { "coordinates": [ { "allele": "C", "end": 490, "referenceAllele": "A", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536974.2:c.314A>C" ], "proteinEffect": { "hgvs": "XP_011535276.1:p.Lys105Thr", "hgvsWellDefined": "XP_011535276.1:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS552701" }, { "coordinates": [ { "allele": "C", "end": 538, "referenceAllele": "A", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "NM_000021.4:c.326A>C" ], "proteinEffect": { "hgvs": "NP_000012.1:p.Lys109Thr", "hgvsWellDefined": "NP_000012.1:p.Lys109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS662285", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324501.10:c.326A>C" }, "RefSeq": { "hgvs": "NM_000021.4:c.326A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326366.5:p.Lys109Thr" }, "RefSeq": { "hgvs": "NP_000012.1:p.Lys109Thr" } } } }, { "coordinates": [ { "allele": "C", "end": 526, "referenceAllele": "A", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "NM_007318.3:c.314A>C" ], "proteinEffect": { "hgvs": "NP_015557.2:p.Lys105Thr", "hgvsWellDefined": "NP_015557.2:p.Lys105Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS696969" } ], "type": "nucleotide" }