{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA349077094", "communityStandardTitle": [ "NM_001165963.4(SCN1A):c.311C>A (p.Ala104Asp)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=557691[alleleid]", "alleleId": 557691, "preferredName": "NM_001165963.4(SCN1A):c.311C>A (p.Ala104Asp)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/567303", "RCV": [ "RCV000687341", "RCV002283507" ], "variationId": 567303 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166915152G>T?assembly=hg19", "id": "chr2:g.166915152G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166058642G>T?assembly=hg38", "id": "chr2:g.166058642G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1553553527", "rs": 1553553527 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166058642, "referenceAllele": "G", "start": 166058641 } ], "hgvs": [ "NC_000002.12:g.166058642G>T", "CM000664.2:g.166058642G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166915152, "referenceAllele": "G", "start": 166915151 } ], "hgvs": [ "NC_000002.11:g.166915152G>T", "CM000664.1:g.166915152G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166623398, "referenceAllele": "G", "start": 166623397 } ], "hgvs": [ "NC_000002.10:g.166623398G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 19998, "referenceAllele": "C", "start": 19997 } ], "hgvs": [ "NG_011906.1:g.19998C>A", "LRG_8:g.19998C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002054" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 360, "referenceAllele": "C", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000689288.1:c.311C>A" ], "proteinEffect": { "hgvs": "ENSP00000509637.1:p.Ala104Asp", "hgvsWellDefined": "ENSP00000509637.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS832093" }, { "coordinates": [ { "allele": "A", "end": 702, "referenceAllele": "C", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.9:c.311C>A" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Ala104Asp", "hgvsWellDefined": "ENSP00000303540.4:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS745029" }, { "coordinates": [ { "allele": "A", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635750.1:c.311C>A" ], "proteinEffect": { "hgvs": "ENSP00000490799.1:p.Ala104Asp", "hgvsWellDefined": "ENSP00000490799.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS762613" }, { "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635776.1:c.311C>A" ], "proteinEffect": { "hgvs": "ENSP00000490692.1:p.Ala104Asp", "hgvsWellDefined": "ENSP00000490692.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS762634" }, { "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "C", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000636194.1:c.311C>A" ], "proteinEffect": { "hgvs": "ENSP00000490288.1:p.Ala104Asp", "hgvsWellDefined": "ENSP00000490288.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS762941" }, { "coordinates": [ { "allele": "A", "end": 971, "referenceAllele": "C", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000636759.1:c.*101C>A" ], "proteinEffect": { "hgvs": "ENSP00000490895.1:n.*101C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS763360" }, { "coordinates": [ { "allele": "A", "end": 563, "referenceAllele": "C", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637968.1:n.563C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS764246" }, { "coordinates": [ { "allele": "A", "end": 791, "referenceAllele": "C", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637988.1:c.311C>A" ], "proteinEffect": { "hgvs": "ENSP00000490780.1:p.Ala104Asp", "hgvsWellDefined": "ENSP00000490780.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS764260" }, { "coordinates": [ { "allele": "A", "end": 360, "referenceAllele": "C", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000640036.1:c.311C>A" ], "proteinEffect": { "hgvs": "ENSP00000491573.1:p.Ala104Asp", "hgvsWellDefined": "ENSP00000491573.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS765301" }, { "coordinates": [ { "allele": "A", "end": 587, "referenceAllele": "C", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641575.1:c.311C>A" ], "proteinEffect": { "hgvs": "ENSP00000492917.1:p.Ala104Asp", "hgvsWellDefined": "ENSP00000492917.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS766184" }, { "coordinates": [ { "allele": "A", "end": 465, "referenceAllele": "C", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641603.1:c.311C>A" ], "proteinEffect": { "hgvs": "ENSP00000492945.1:p.Ala104Asp", "hgvsWellDefined": "ENSP00000492945.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS766204" }, { "coordinates": [ { "allele": "A", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641996.1:c.311C>A" ], "proteinEffect": { "hgvs": "ENSP00000493054.1:p.Ala104Asp", "hgvsWellDefined": "ENSP00000493054.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS766485" }, { "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "C", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000671940.1:c.311C>A" ], "proteinEffect": { "hgvs": "ENSP00000500336.1:p.Ala104Asp", "hgvsWellDefined": "ENSP00000500336.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS773217" }, { "coordinates": [ { "allele": "A", "end": 2784, "referenceAllele": "C", "start": 2783 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000673490.1:n.2784C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773702" }, { "coordinates": [ { "allele": "A", "end": 789, "referenceAllele": "C", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000674923.1:c.311C>A" ], "proteinEffect": { "hgvs": "ENSP00000501589.1:p.Ala104Asp", "hgvsWellDefined": "ENSP00000501589.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS774809", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.311C>A" }, "RefSeq": { "hgvs": "NM_001165963.4:c.311C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Ala104Asp" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Ala104Asp" } } } }, { "coordinates": [ { "allele": "A", "end": 729, "referenceAllele": "C", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.8:c.311C>A" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Ala104Asp", "hgvsWellDefined": "ENSP00000303540.4:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS255312" }, { "coordinates": [ { "allele": "A", "end": 329, "referenceAllele": "C", "start": 328 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000375405.7:c.311C>A" ], "proteinEffect": { "hgvs": "ENSP00000364554.3:p.Ala104Asp", "hgvsWellDefined": "ENSP00000364554.3:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS270694" }, { "coordinates": [ { "allele": "A", "end": 311, "referenceAllele": "C", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000409050.1:c.311C>A" ], "proteinEffect": { "hgvs": "ENSP00000386312.1:p.Ala104Asp", "hgvsWellDefined": "ENSP00000386312.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS281214" }, { "coordinates": [ { "allele": "A", "end": 387, "referenceAllele": "C", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000423058.6:c.311C>A" ], "proteinEffect": { "hgvs": "ENSP00000407030.2:p.Ala104Asp", "hgvsWellDefined": "ENSP00000407030.2:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS287573" }, { "@id": "http://reg.genome.network/allele/PA2826008815", "coordinates": [ { "allele": "A", "end": 329, "referenceAllele": "C", "start": 328 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.1:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Ala104Asp", "hgvsWellDefined": "NP_001159435.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS014743" }, { "@id": "http://reg.genome.network/allele/PA2826011439", "coordinates": [ { "allele": "A", "end": 329, "referenceAllele": "C", "start": 328 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.1:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Ala104Asp", "hgvsWellDefined": "NP_001159436.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS014744" }, { "@id": "http://reg.genome.network/allele/PA2826258019", "coordinates": [ { "allele": "A", "end": 538, "referenceAllele": "C", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.1:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Ala104Asp", "hgvsWellDefined": "NP_001189364.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS017403" }, { "@id": "http://reg.genome.network/allele/PA891848761", "coordinates": [ { "allele": "A", "end": 329, "referenceAllele": "C", "start": 328 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.4:c.311C>A", "LRG_8t1:c.311C>A" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Ala104Asp", "hgvsWellDefined": "NP_008851.3:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS031895" }, { "coordinates": [ { "allele": "A", "end": 495, "referenceAllele": "C", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511598.1:c.311C>A" ], "proteinEffect": { "hgvs": "XP_011509900.1:p.Ala104Asp", "hgvsWellDefined": "XP_011509900.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS078859" }, { "coordinates": [ { "allele": "A", "end": 710, "referenceAllele": "C", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511599.1:c.311C>A" ], "proteinEffect": { "hgvs": "XP_011509901.1:p.Ala104Asp", "hgvsWellDefined": "XP_011509901.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS078860" }, { "coordinates": [ { "allele": "A", "end": 586, "referenceAllele": "C", "start": 585 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511600.1:c.311C>A" ], "proteinEffect": { "hgvs": "XP_011509902.1:p.Ala104Asp", "hgvsWellDefined": "XP_011509902.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS078861" }, { "coordinates": [ { "allele": "A", "end": 705, "referenceAllele": "C", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511601.1:c.311C>A" ], "proteinEffect": { "hgvs": "XP_011509903.1:p.Ala104Asp", "hgvsWellDefined": "XP_011509903.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS078862" }, { "coordinates": [ { "allele": "A", "end": 618, "referenceAllele": "C", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511602.1:c.311C>A" ], "proteinEffect": { "hgvs": "XP_011509904.1:p.Ala104Asp", "hgvsWellDefined": "XP_011509904.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS078863" }, { "coordinates": [ { "allele": "A", "end": 495, "referenceAllele": "C", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511603.1:c.311C>A" ], "proteinEffect": { "hgvs": "XP_011509905.1:p.Ala104Asp", "hgvsWellDefined": "XP_011509905.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS078864" }, { "coordinates": [ { "allele": "A", "end": 495, "referenceAllele": "C", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511604.1:c.311C>A" ], "proteinEffect": { "hgvs": "XP_011509906.1:p.Ala104Asp", "hgvsWellDefined": "XP_011509906.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS078865" }, { "coordinates": [ { "allele": "A", "end": 495, "referenceAllele": "C", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511605.1:c.311C>A" ], "proteinEffect": { "hgvs": "XP_011509907.1:p.Ala104Asp", "hgvsWellDefined": "XP_011509907.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS078866" }, { "coordinates": [ { "allele": "A", "end": 495, "referenceAllele": "C", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511606.1:c.311C>A" ], "proteinEffect": { "hgvs": "XP_011509908.1:p.Ala104Asp", "hgvsWellDefined": "XP_011509908.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS078867" }, { "coordinates": [ { "allele": "A", "end": 495, "referenceAllele": "C", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511607.1:c.311C>A" ], "proteinEffect": { "hgvs": "XP_011509909.1:p.Ala104Asp", "hgvsWellDefined": "XP_011509909.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS078868" }, { "coordinates": [ { "allele": "A", "end": 495, "referenceAllele": "C", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_922981.1:n.495C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS120043" }, { "@id": "http://reg.genome.network/allele/PA2826008815", "coordinates": [ { "allele": "A", "end": 808, "referenceAllele": "C", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.2:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Ala104Asp", "hgvsWellDefined": "NP_001159435.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS511667" }, { "@id": "http://reg.genome.network/allele/PA2826011439", "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "C", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.2:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Ala104Asp", "hgvsWellDefined": "NP_001159436.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS511668" }, { "@id": "http://reg.genome.network/allele/PA2826258019", "coordinates": [ { "allele": "A", "end": 622, "referenceAllele": "C", "start": 621 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.2:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Ala104Asp", "hgvsWellDefined": "NP_001189364.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS511850" }, { "@id": "http://reg.genome.network/allele/PA2827749261", "coordinates": [ { "allele": "A", "end": 629, "referenceAllele": "C", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.1:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Ala104Asp", "hgvsWellDefined": "NP_001340877.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS522051" }, { "@id": "http://reg.genome.network/allele/PA2827755946", "coordinates": [ { "allele": "A", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.1:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Ala104Asp", "hgvsWellDefined": "NP_001340878.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS522052" }, { "@id": "http://reg.genome.network/allele/PA2827762553", "coordinates": [ { "allele": "A", "end": 622, "referenceAllele": "C", "start": 621 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.1:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Ala104Asp", "hgvsWellDefined": "NP_001340879.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS522053" }, { "@id": "http://reg.genome.network/allele/PA2827769064", "coordinates": [ { "allele": "A", "end": 629, "referenceAllele": "C", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.1:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Ala104Asp", "hgvsWellDefined": "NP_001340880.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS522054" }, { "@id": "http://reg.genome.network/allele/PA2827772383", "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "C", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.1:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Ala104Asp", "hgvsWellDefined": "NP_001340881.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS522055" }, { "@id": "http://reg.genome.network/allele/PA2827775371", "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "C", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.1:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Ala104Asp", "hgvsWellDefined": "NP_001340883.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS522056" }, { "@id": "http://reg.genome.network/allele/PA2827778357", "coordinates": [ { "allele": "A", "end": 629, "referenceAllele": "C", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.1:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Ala104Asp", "hgvsWellDefined": "NP_001340884.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS522057" }, { "@id": "http://reg.genome.network/allele/PA2827781345", "coordinates": [ { "allele": "A", "end": 629, "referenceAllele": "C", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.1:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Ala104Asp", "hgvsWellDefined": "NP_001340886.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS522058" }, { "@id": "http://reg.genome.network/allele/PA2827784315", "coordinates": [ { "allele": "A", "end": 622, "referenceAllele": "C", "start": 621 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.1:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Ala104Asp", "hgvsWellDefined": "NP_001340887.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS522059" }, { "@id": "http://reg.genome.network/allele/PA2827787277", "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "C", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.1:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Ala104Asp", "hgvsWellDefined": "NP_001340889.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS522060" }, { "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "C", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.1:c.-2115C>A" ], "proteinEffect": { "hgvs": "NP_001340890.1:n.-2115C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522061" }, { "@id": "http://reg.genome.network/allele/PA891848761", "coordinates": [ { "allele": "A", "end": 808, "referenceAllele": "C", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.5:c.311C>A" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Ala104Asp", "hgvsWellDefined": "NP_008851.3:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS525436" }, { "coordinates": [ { "allele": "A", "end": 716, "referenceAllele": "C", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.1:n.716C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531272" }, { "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "C", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738883.1:n.697C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589320" }, { "coordinates": [ { "allele": "A", "end": 702, "referenceAllele": "C", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738884.1:n.702C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589321" }, { "@id": "http://reg.genome.network/allele/PA2826008815", "coordinates": [ { "allele": "A", "end": 789, "referenceAllele": "C", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.3:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Ala104Asp", "hgvsWellDefined": "NP_001159435.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS678433" }, { "@id": "http://reg.genome.network/allele/PA2826011439", "coordinates": [ { "allele": "A", "end": 702, "referenceAllele": "C", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.3:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Ala104Asp", "hgvsWellDefined": "NP_001159436.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS678434" }, { "@id": "http://reg.genome.network/allele/PA2826258019", "coordinates": [ { "allele": "A", "end": 567, "referenceAllele": "C", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.3:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Ala104Asp", "hgvsWellDefined": "NP_001189364.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS679700" }, { "@id": "http://reg.genome.network/allele/PA2827749261", "coordinates": [ { "allele": "A", "end": 610, "referenceAllele": "C", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.2:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Ala104Asp", "hgvsWellDefined": "NP_001340877.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS689996" }, { "@id": "http://reg.genome.network/allele/PA2827755946", "coordinates": [ { "allele": "A", "end": 475, "referenceAllele": "C", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.2:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Ala104Asp", "hgvsWellDefined": "NP_001340878.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS689997" }, { "@id": "http://reg.genome.network/allele/PA2827762553", "coordinates": [ { "allele": "A", "end": 567, "referenceAllele": "C", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.2:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Ala104Asp", "hgvsWellDefined": "NP_001340879.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS689998" }, { "@id": "http://reg.genome.network/allele/PA2827769064", "coordinates": [ { "allele": "A", "end": 610, "referenceAllele": "C", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.2:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Ala104Asp", "hgvsWellDefined": "NP_001340880.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS689999" }, { "@id": "http://reg.genome.network/allele/PA2827772383", "coordinates": [ { "allele": "A", "end": 702, "referenceAllele": "C", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.2:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Ala104Asp", "hgvsWellDefined": "NP_001340881.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS690000" }, { "@id": "http://reg.genome.network/allele/PA2827775371", "coordinates": [ { "allele": "A", "end": 702, "referenceAllele": "C", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.2:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Ala104Asp", "hgvsWellDefined": "NP_001340883.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS690001" }, { "@id": "http://reg.genome.network/allele/PA2827778357", "coordinates": [ { "allele": "A", "end": 610, "referenceAllele": "C", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.2:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Ala104Asp", "hgvsWellDefined": "NP_001340884.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS690002" }, { "@id": "http://reg.genome.network/allele/PA2827781345", "coordinates": [ { "allele": "A", "end": 610, "referenceAllele": "C", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.2:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Ala104Asp", "hgvsWellDefined": "NP_001340886.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS690003" }, { "@id": "http://reg.genome.network/allele/PA2827784315", "coordinates": [ { "allele": "A", "end": 567, "referenceAllele": "C", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.2:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Ala104Asp", "hgvsWellDefined": "NP_001340887.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS690004" }, { "@id": "http://reg.genome.network/allele/PA2827787277", "coordinates": [ { "allele": "A", "end": 702, "referenceAllele": "C", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.2:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Ala104Asp", "hgvsWellDefined": "NP_001340889.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS690005" }, { "coordinates": [ { "allele": "A", "end": 702, "referenceAllele": "C", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.2:c.-2115C>A" ], "proteinEffect": { "hgvs": "NP_001340890.1:n.-2115C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS690006" }, { "@id": "http://reg.genome.network/allele/PA891848761", "coordinates": [ { "allele": "A", "end": 789, "referenceAllele": "C", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.6:c.311C>A" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Ala104Asp", "hgvsWellDefined": "NP_008851.3:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS696855" }, { "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "C", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.2:n.697C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704821" }, { "@id": "http://reg.genome.network/allele/PA2826008815", "coordinates": [ { "allele": "A", "end": 789, "referenceAllele": "C", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.4:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Ala104Asp", "hgvsWellDefined": "NP_001159435.1:p.Ala104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS713154", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.311C>A" }, "RefSeq": { "hgvs": "NM_001165963.4:c.311C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Ala104Asp" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Ala104Asp" } } } } ], "type": "nucleotide" }