{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA390303624", "communityStandardTitle": [ "NM_000021.4(PSEN1):c.322C>G (p.Arg108Gly)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.73637739C>G?assembly=hg19", "id": "chr14:g.73637739C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.73171031C>G?assembly=hg38", "id": "chr14:g.73171031C>G" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "G", "end": 73171031, "referenceAllele": "C", "start": 73171030 } ], "hgvs": [ "NC_000014.9:g.73171031C>G", "CM000676.2:g.73171031C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "G", "end": 73637739, "referenceAllele": "C", "start": 73637738 } ], "hgvs": [ "NC_000014.8:g.73637739C>G", "CM000676.1:g.73637739C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "G", "end": 72707492, "referenceAllele": "C", "start": 72707491 } ], "hgvs": [ "NC_000014.7:g.72707492C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "G", "end": 39561, "referenceAllele": "C", "start": 39560 } ], "hgvs": [ "NG_007386.2:g.39561C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000560" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 719, "referenceAllele": "C", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000553447.7:c.*266C>G" ], "proteinEffect": { "hgvs": "ENSP00000514869.1:n.*266C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS905852" }, { "coordinates": [ { "allele": "G", "end": 626, "referenceAllele": "C", "start": 625 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000553599.6:c.310C>G" ], "proteinEffect": { "hgvs": "ENSP00000452477.2:p.Arg104Gly", "hgvsWellDefined": "ENSP00000452477.2:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS905856" }, { "coordinates": [ { "allele": "G", "end": 586, "referenceAllele": "C", "start": 585 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000554131.6:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000451915.2:p.Arg108Gly", "hgvsWellDefined": "ENSP00000451915.2:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS905859" }, { "coordinates": [ { "allele": "G", "end": 578, "referenceAllele": "C", "start": 577 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000555386.6:c.310C>G" ], "proteinEffect": { "hgvs": "ENSP00000450845.1:p.Arg104Gly", "hgvsWellDefined": "ENSP00000450845.1:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS905866" }, { "coordinates": [ { "allele": "G", "end": 766, "referenceAllele": "C", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000556011.6:c.*266C>G" ], "proteinEffect": { "hgvs": "ENSP00000451662.2:n.*266C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS905871" }, { "coordinates": [ { "allele": "G", "end": 748, "referenceAllele": "C", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000556066.2:n.748C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS905873" }, { "coordinates": [ { "allele": "G", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000556951.6:c.310C>G" ], "proteinEffect": { "hgvs": "ENSP00000450551.2:p.Arg104Gly", "hgvsWellDefined": "ENSP00000450551.2:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS905881" }, { "coordinates": [ { "allele": "G", "end": 600, "referenceAllele": "C", "start": 599 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000557293.6:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000451880.2:p.Arg108Gly", "hgvsWellDefined": "ENSP00000451880.2:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS905886" }, { "coordinates": [ { "allele": "G", "end": 637, "referenceAllele": "C", "start": 636 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000559361.6:c.*266C>G" ], "proteinEffect": { "hgvs": "ENSP00000454156.1:n.*266C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS905908" }, { "coordinates": [ { "allele": "G", "end": 578, "referenceAllele": "C", "start": 577 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000697912.1:c.310C>G" ], "proteinEffect": { "hgvs": "ENSP00000513477.1:p.Arg104Gly", "hgvsWellDefined": "ENSP00000513477.1:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS909070" }, { "coordinates": [ { "allele": "G", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000697913.1:n.576C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS909071" }, { "coordinates": [ { "allele": "G", "end": 534, "referenceAllele": "C", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000697914.1:n.534C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS909072" }, { "coordinates": [ { "allele": "G", "end": 438, "referenceAllele": "C", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700265.1:c.310C>G" ], "proteinEffect": { "hgvs": "ENSP00000514901.1:p.Arg104Gly", "hgvsWellDefined": "ENSP00000514901.1:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911092" }, { "coordinates": [ { "allele": "G", "end": 817, "referenceAllele": "C", "start": 816 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700266.1:c.*411C>G" ], "proteinEffect": { "hgvs": "ENSP00000514902.1:n.*411C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS911093" }, { "coordinates": [ { "allele": "G", "end": 479, "referenceAllele": "C", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700267.1:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000514903.1:p.Arg108Gly", "hgvsWellDefined": "ENSP00000514903.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911094" }, { "coordinates": [ { "allele": "G", "end": 598, "referenceAllele": "C", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700268.1:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000514904.1:p.Arg108Gly", "hgvsWellDefined": "ENSP00000514904.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911095" }, { "coordinates": [ { "allele": "G", "end": 638, "referenceAllele": "C", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700269.1:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000514905.1:p.Arg108Gly", "hgvsWellDefined": "ENSP00000514905.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911096" }, { "coordinates": [ { "allele": "G", "end": 578, "referenceAllele": "C", "start": 577 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700270.1:n.578C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS911097" }, { "coordinates": [ { "allele": "G", "end": 578, "referenceAllele": "C", "start": 577 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700271.1:c.310C>G" ], "proteinEffect": { "hgvs": "ENSP00000514906.1:p.Arg104Gly", "hgvsWellDefined": "ENSP00000514906.1:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911098" }, { "coordinates": [ { "allele": "G", "end": 716, "referenceAllele": "C", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700272.1:c.*266C>G" ], "proteinEffect": { "hgvs": "ENSP00000514907.1:n.*266C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS911099" }, { "coordinates": [ { "allele": "G", "end": 618, "referenceAllele": "C", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700273.1:c.310C>G" ], "proteinEffect": { "hgvs": "ENSP00000514908.1:p.Arg104Gly", "hgvsWellDefined": "ENSP00000514908.1:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911100" }, { "coordinates": [ { "allele": "G", "end": 588, "referenceAllele": "C", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700302.1:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000514929.1:p.Arg108Gly", "hgvsWellDefined": "ENSP00000514929.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911127" }, { "coordinates": [ { "allele": "G", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700303.1:c.310C>G" ], "proteinEffect": { "hgvs": "ENSP00000514930.1:p.Arg104Gly", "hgvsWellDefined": "ENSP00000514930.1:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911128" }, { "coordinates": [ { "allele": "G", "end": 710, "referenceAllele": "C", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700304.1:c.*266C>G" ], "proteinEffect": { "hgvs": "ENSP00000514931.1:n.*266C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS911129" }, { "coordinates": [ { "allele": "G", "end": 568, "referenceAllele": "C", "start": 567 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700305.1:c.310C>G" ], "proteinEffect": { "hgvs": "ENSP00000514932.1:p.Arg104Gly", "hgvsWellDefined": "ENSP00000514932.1:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911130" }, { "coordinates": [ { "allele": "G", "end": 611, "referenceAllele": "C", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700306.1:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000514933.1:p.Arg108Gly", "hgvsWellDefined": "ENSP00000514933.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911131" }, { "coordinates": [ { "allele": "G", "end": 564, "referenceAllele": "C", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700307.1:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000514934.1:p.Arg108Gly", "hgvsWellDefined": "ENSP00000514934.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911132" }, { "coordinates": [ { "allele": "G", "end": 672, "referenceAllele": "C", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700308.1:c.*266C>G" ], "proteinEffect": { "hgvs": "ENSP00000514935.1:n.*266C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS911133" }, { "coordinates": [ { "allele": "G", "end": 757, "referenceAllele": "C", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700309.1:c.*411C>G" ], "proteinEffect": { "hgvs": "ENSP00000514936.1:n.*411C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS911134" }, { "coordinates": [ { "allele": "G", "end": 522, "referenceAllele": "C", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700310.1:c.310C>G" ], "proteinEffect": { "hgvs": "ENSP00000514937.1:p.Arg104Gly", "hgvsWellDefined": "ENSP00000514937.1:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911135" }, { "coordinates": [ { "allele": "G", "end": 575, "referenceAllele": "C", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700311.1:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000514938.1:p.Arg108Gly", "hgvsWellDefined": "ENSP00000514938.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911136" }, { "coordinates": [ { "allele": "G", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700312.1:c.73C>G" ], "proteinEffect": { "hgvs": "ENSP00000514939.1:p.Arg25Gly", "hgvsWellDefined": "ENSP00000514939.1:p.Arg25Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911137" }, { "coordinates": [ { "allele": "G", "end": 559, "referenceAllele": "C", "start": 558 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700313.1:c.310C>G" ], "proteinEffect": { "hgvs": "ENSP00000514940.1:p.Arg104Gly", "hgvsWellDefined": "ENSP00000514940.1:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911138" }, { "coordinates": [ { "allele": "G", "end": 620, "referenceAllele": "C", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700314.1:c.*261C>G" ], "proteinEffect": { "hgvs": "ENSP00000514941.1:n.*261C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS911139" }, { "coordinates": [ { "allele": "G", "end": 534, "referenceAllele": "C", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700315.1:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000514942.1:p.Arg108Gly", "hgvsWellDefined": "ENSP00000514942.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911140" }, { "coordinates": [ { "allele": "G", "end": 626, "referenceAllele": "C", "start": 625 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700316.1:c.*102C>G" ], "proteinEffect": { "hgvs": "ENSP00000514943.1:n.*102C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS911141" }, { "coordinates": [ { "allele": "G", "end": 502, "referenceAllele": "C", "start": 501 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700317.1:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000514944.1:p.Arg108Gly", "hgvsWellDefined": "ENSP00000514944.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911142" }, { "coordinates": [ { "allele": "G", "end": 534, "referenceAllele": "C", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700318.1:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000514945.1:p.Arg108Gly", "hgvsWellDefined": "ENSP00000514945.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911143" }, { "coordinates": [ { "allele": "G", "end": 534, "referenceAllele": "C", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700319.1:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000514946.1:p.Arg108Gly", "hgvsWellDefined": "ENSP00000514946.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911144" }, { "coordinates": [ { "allele": "G", "end": 534, "referenceAllele": "C", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700320.1:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000514947.1:p.Arg108Gly", "hgvsWellDefined": "ENSP00000514947.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911145" }, { "coordinates": [ { "allele": "G", "end": 536, "referenceAllele": "C", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700321.1:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000514948.1:p.Arg108Gly", "hgvsWellDefined": "ENSP00000514948.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911146" }, { "coordinates": [ { "allele": "G", "end": 488, "referenceAllele": "C", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700322.1:c.310C>G" ], "proteinEffect": { "hgvs": "ENSP00000514949.1:p.Arg104Gly", "hgvsWellDefined": "ENSP00000514949.1:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911147" }, { "coordinates": [ { "allele": "G", "end": 578, "referenceAllele": "C", "start": 577 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700323.1:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000514950.1:p.Arg108Gly", "hgvsWellDefined": "ENSP00000514950.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911148" }, { "coordinates": [ { "allele": "G", "end": 540, "referenceAllele": "C", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700324.1:c.310C>G" ], "proteinEffect": { "hgvs": "ENSP00000514951.1:p.Arg104Gly", "hgvsWellDefined": "ENSP00000514951.1:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911149" }, { "coordinates": [ { "allele": "G", "end": 597, "referenceAllele": "C", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700375.1:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000514966.1:p.Arg108Gly", "hgvsWellDefined": "ENSP00000514966.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911167" }, { "coordinates": [ { "allele": "G", "end": 906, "referenceAllele": "C", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700376.1:n.906C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS911168" }, { "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "C", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700377.1:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000514967.1:p.Arg108Gly", "hgvsWellDefined": "ENSP00000514967.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911169" }, { "coordinates": [ { "allele": "G", "end": 918, "referenceAllele": "C", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700378.1:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000514968.1:p.Arg108Gly", "hgvsWellDefined": "ENSP00000514968.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911170" }, { "coordinates": [ { "allele": "G", "end": 720, "referenceAllele": "C", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700379.1:n.720C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS911171" }, { "coordinates": [ { "allele": "G", "end": 569, "referenceAllele": "C", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700388.1:n.569C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS911173" }, { "coordinates": [ { "allele": "G", "end": 722, "referenceAllele": "C", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700389.1:c.310C>G" ], "proteinEffect": { "hgvs": "ENSP00000514970.1:p.Arg104Gly", "hgvsWellDefined": "ENSP00000514970.1:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911174" }, { "coordinates": [ { "allele": "G", "end": 2033, "referenceAllele": "C", "start": 2032 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700390.1:n.2033C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS911175" }, { "coordinates": [ { "allele": "G", "end": 1205, "referenceAllele": "C", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700404.1:n.1205C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS911189" }, { "coordinates": [ { "allele": "G", "end": 587, "referenceAllele": "C", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700430.1:c.*266C>G" ], "proteinEffect": { "hgvs": "ENSP00000514985.1:n.*266C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS911211" }, { "coordinates": [ { "allele": "G", "end": 445, "referenceAllele": "C", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700431.1:c.310C>G" ], "proteinEffect": { "hgvs": "ENSP00000514986.1:p.Arg104Gly", "hgvsWellDefined": "ENSP00000514986.1:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911212" }, { "coordinates": [ { "allele": "G", "end": 679, "referenceAllele": "C", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700432.1:n.679C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS911213" }, { "coordinates": [ { "allele": "G", "end": 457, "referenceAllele": "C", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700433.1:n.457C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS911214" }, { "coordinates": [ { "allele": "G", "end": 575, "referenceAllele": "C", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700434.1:n.575C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS911215" }, { "coordinates": [ { "allele": "G", "end": 457, "referenceAllele": "C", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700435.1:n.457C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS911216" }, { "coordinates": [ { "allele": "G", "end": 457, "referenceAllele": "C", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700436.1:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000514987.1:p.Arg108Gly", "hgvsWellDefined": "ENSP00000514987.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911217" }, { "coordinates": [ { "allele": "G", "end": 449, "referenceAllele": "C", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700437.1:c.73C>G" ], "proteinEffect": { "hgvs": "ENSP00000514988.1:p.Arg25Gly", "hgvsWellDefined": "ENSP00000514988.1:p.Arg25Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911218" }, { "coordinates": [ { "allele": "G", "end": 457, "referenceAllele": "C", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700467.1:n.457C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS911227" }, { "coordinates": [ { "allele": "G", "end": 445, "referenceAllele": "C", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700468.1:c.310C>G" ], "proteinEffect": { "hgvs": "ENSP00000515001.1:p.Arg104Gly", "hgvsWellDefined": "ENSP00000515001.1:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911228" }, { "coordinates": [ { "allele": "G", "end": 451, "referenceAllele": "C", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700469.1:c.310C>G" ], "proteinEffect": { "hgvs": "ENSP00000515002.1:p.Arg104Gly", "hgvsWellDefined": "ENSP00000515002.1:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911229" }, { "coordinates": [ { "allele": "G", "end": 534, "referenceAllele": "C", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000324501.10:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000326366.5:p.Arg108Gly", "hgvsWellDefined": "ENSP00000326366.5:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS746639", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324501.10:c.322C>G" }, "RefSeq": { "hgvs": "NM_000021.4:c.322C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326366.5:p.Arg108Gly" }, "RefSeq": { "hgvs": "NP_000012.1:p.Arg108Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 594, "referenceAllele": "C", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000324501.9:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000326366.5:p.Arg108Gly", "hgvsWellDefined": "ENSP00000326366.5:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS258358" }, { "coordinates": [ { "allele": "G", "end": 582, "referenceAllele": "C", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000357710.8:c.310C>G" ], "proteinEffect": { "hgvs": "ENSP00000350342.4:p.Arg104Gly", "hgvsWellDefined": "ENSP00000350342.4:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS264203" }, { "coordinates": [ { "allele": "G", "end": 594, "referenceAllele": "C", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000394157.7:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000377712.3:p.Arg108Gly", "hgvsWellDefined": "ENSP00000377712.3:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS276015" }, { "coordinates": [ { "allele": "G", "end": 852, "referenceAllele": "C", "start": 851 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000394164.5:c.310C>G" ], "proteinEffect": { "hgvs": "ENSP00000377719.1:p.Arg104Gly", "hgvsWellDefined": "ENSP00000377719.1:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS276020" }, { "coordinates": [ { "allele": "G", "end": 1868, "referenceAllele": "C", "start": 1867 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000406768.1:c.46C>G" ], "proteinEffect": { "hgvs": "ENSP00000385948.1:p.Arg16Gly", "hgvsWellDefined": "ENSP00000385948.1:p.Arg16Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS280729" }, { "coordinates": [ { "allele": "G", "end": 581, "referenceAllele": "C", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000553719.5:c.310C>G" ], "proteinEffect": { "hgvs": "ENSP00000451674.1:p.Arg104Gly", "hgvsWellDefined": "ENSP00000451674.1:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS370080" }, { "coordinates": [ { "allele": "G", "end": 322, "referenceAllele": "C", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000553855.5:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000452242.1:p.Arg108Gly", "hgvsWellDefined": "ENSP00000452242.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS370182" }, { "coordinates": [ { "allele": "G", "end": 586, "referenceAllele": "C", "start": 585 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000554131.5:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000451915.1:p.Arg108Gly", "hgvsWellDefined": "ENSP00000451915.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS370399" }, { "coordinates": [ { "allele": "G", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000555254.5:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000450652.1:p.Arg108Gly", "hgvsWellDefined": "ENSP00000450652.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS371296" }, { "coordinates": [ { "allele": "G", "end": 310, "referenceAllele": "C", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000555386.5:c.310C>G" ], "proteinEffect": { "hgvs": "ENSP00000450845.1:p.Arg104Gly", "hgvsWellDefined": "ENSP00000450845.1:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS371393" }, { "coordinates": [ { "allele": "G", "end": 476, "referenceAllele": "C", "start": 475 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000557356.5:c.310C>G" ], "proteinEffect": { "hgvs": "ENSP00000451498.1:p.Arg104Gly", "hgvsWellDefined": "ENSP00000451498.1:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS372957" }, { "coordinates": [ { "allele": "G", "end": 322, "referenceAllele": "C", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000557511.5:c.322C>G" ], "proteinEffect": { "hgvs": "ENSP00000451429.1:p.Arg108Gly", "hgvsWellDefined": "ENSP00000451429.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS373091" }, { "coordinates": [ { "allele": "G", "end": 637, "referenceAllele": "C", "start": 636 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000559361.5:c.*266C>G" ], "proteinEffect": { "hgvs": "ENSP00000454156.1:n.*266C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS374522" }, { "coordinates": [ { "allele": "G", "end": 680, "referenceAllele": "C", "start": 679 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000560005.6:c.310C>G" ], "proteinEffect": { "hgvs": "ENSP00000453466.1:p.Arg104Gly", "hgvsWellDefined": "ENSP00000453466.1:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS375024" }, { "coordinates": [ { "allele": "G", "end": 606, "referenceAllele": "C", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "NM_000021.3:c.322C>G" ], "proteinEffect": { "hgvs": "NP_000012.1:p.Arg108Gly", "hgvsWellDefined": "NP_000012.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS006086" }, { "coordinates": [ { "allele": "G", "end": 594, "referenceAllele": "C", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "NM_007318.2:c.310C>G" ], "proteinEffect": { "hgvs": "NP_015557.2:p.Arg104Gly", "hgvsWellDefined": "NP_015557.2:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS032224" }, { "coordinates": [ { "allele": "G", "end": 600, "referenceAllele": "C", "start": 599 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_005267864.1:c.322C>G" ], "proteinEffect": { "hgvs": "XP_005267921.1:p.Arg108Gly", "hgvsWellDefined": "XP_005267921.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS065537" }, { "coordinates": [ { "allele": "G", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_005267866.1:c.310C>G" ], "proteinEffect": { "hgvs": "XP_005267923.1:p.Arg104Gly", "hgvsWellDefined": "XP_005267923.1:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS065538" }, { "coordinates": [ { "allele": "G", "end": 498, "referenceAllele": "C", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536971.1:c.322C>G" ], "proteinEffect": { "hgvs": "XP_011535273.1:p.Arg108Gly", "hgvsWellDefined": "XP_011535273.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS103942" }, { "coordinates": [ { "allele": "G", "end": 862, "referenceAllele": "C", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536972.1:c.322C>G" ], "proteinEffect": { "hgvs": "XP_011535274.1:p.Arg108Gly", "hgvsWellDefined": "XP_011535274.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS103943" }, { "coordinates": [ { "allele": "G", "end": 850, "referenceAllele": "C", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536973.1:c.310C>G" ], "proteinEffect": { "hgvs": "XP_011535275.1:p.Arg104Gly", "hgvsWellDefined": "XP_011535275.1:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS103944" }, { "coordinates": [ { "allele": "G", "end": 491, "referenceAllele": "C", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536974.1:c.310C>G" ], "proteinEffect": { "hgvs": "XP_011535276.1:p.Arg104Gly", "hgvsWellDefined": "XP_011535276.1:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS103945" }, { "coordinates": [ { "allele": "G", "end": 592, "referenceAllele": "C", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_005267864.3:c.322C>G" ], "proteinEffect": { "hgvs": "XP_005267921.1:p.Arg108Gly", "hgvsWellDefined": "XP_005267921.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS536476" }, { "coordinates": [ { "allele": "G", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_005267866.2:c.310C>G" ], "proteinEffect": { "hgvs": "XP_005267923.1:p.Arg104Gly", "hgvsWellDefined": "XP_005267923.1:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS536477" }, { "coordinates": [ { "allele": "G", "end": 862, "referenceAllele": "C", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536972.2:c.322C>G" ], "proteinEffect": { "hgvs": "XP_011535274.1:p.Arg108Gly", "hgvsWellDefined": "XP_011535274.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS552699" }, { "coordinates": [ { "allele": "G", "end": 850, "referenceAllele": "C", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536973.2:c.310C>G" ], "proteinEffect": { "hgvs": "XP_011535275.1:p.Arg104Gly", "hgvsWellDefined": "XP_011535275.1:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS552700" }, { "coordinates": [ { "allele": "G", "end": 486, "referenceAllele": "C", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536974.2:c.310C>G" ], "proteinEffect": { "hgvs": "XP_011535276.1:p.Arg104Gly", "hgvsWellDefined": "XP_011535276.1:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS552701" }, { "coordinates": [ { "allele": "G", "end": 534, "referenceAllele": "C", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "NM_000021.4:c.322C>G" ], "proteinEffect": { "hgvs": "NP_000012.1:p.Arg108Gly", "hgvsWellDefined": "NP_000012.1:p.Arg108Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS662285", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324501.10:c.322C>G" }, "RefSeq": { "hgvs": "NM_000021.4:c.322C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326366.5:p.Arg108Gly" }, "RefSeq": { "hgvs": "NP_000012.1:p.Arg108Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 522, "referenceAllele": "C", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "NM_007318.3:c.310C>G" ], "proteinEffect": { "hgvs": "NP_015557.2:p.Arg104Gly", "hgvsWellDefined": "NP_015557.2:p.Arg104Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS696969" } ], "type": "nucleotide" }