{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA349074053", "communityStandardTitle": [ "NM_001165963.4(SCN1A):c.683C>T (p.Ser228Leu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=790117[alleleid]", "alleleId": 790117, "preferredName": "NM_001165963.4(SCN1A):c.683C>T (p.Ser228Leu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/801820", "RCV": [ "RCV000986914" ], "variationId": 801820 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166909373G>A?assembly=hg19", "id": "chr2:g.166909373G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166052863G>A?assembly=hg38", "id": "chr2:g.166052863G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1574271644", "rs": 1574271644 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-166052863-G-A?dataset=gnomad_r4", "id": "2-166052863-G-A", "variant": "2:166052863 G / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 166052863, "referenceAllele": "G", "start": 166052862 } ], "hgvs": [ "NC_000002.12:g.166052863G>A", "CM000664.2:g.166052863G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 166909373, "referenceAllele": "G", "start": 166909372 } ], "hgvs": [ "NC_000002.11:g.166909373G>A", "CM000664.1:g.166909373G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 166617619, "referenceAllele": "G", "start": 166617618 } ], "hgvs": [ "NC_000002.10:g.166617619G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 25777, "referenceAllele": "C", "start": 25776 } ], "hgvs": [ "NG_011906.1:g.25777C>T", "LRG_8:g.25777C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002054" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 732, "referenceAllele": "C", "start": 731 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000689288.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000509637.1:p.Ser228Leu", "hgvsWellDefined": "ENSP00000509637.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS832093" }, { "coordinates": [ { "allele": "T", "end": 1074, "referenceAllele": "C", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.9:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Ser228Leu", "hgvsWellDefined": "ENSP00000303540.4:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS745029" }, { "coordinates": [ { "allele": "T", "end": 900, "referenceAllele": "C", "start": 899 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635750.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000490799.1:p.Ser228Leu", "hgvsWellDefined": "ENSP00000490799.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS762613" }, { "coordinates": [ { "allele": "T", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635776.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000490692.1:p.Ser228Leu", "hgvsWellDefined": "ENSP00000490692.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS762634" }, { "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000636194.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000490288.1:p.Ser228Leu", "hgvsWellDefined": "ENSP00000490288.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS762941" }, { "coordinates": [ { "allele": "T", "end": 1343, "referenceAllele": "C", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000636759.1:c.*473C>T" ], "proteinEffect": { "hgvs": "ENSP00000490895.1:n.*473C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS763360" }, { "coordinates": [ { "allele": "T", "end": 935, "referenceAllele": "C", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637968.1:n.935C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS764246" }, { "coordinates": [ { "allele": "T", "end": 1163, "referenceAllele": "C", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637988.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000490780.1:p.Ser228Leu", "hgvsWellDefined": "ENSP00000490780.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS764260" }, { "coordinates": [ { "allele": "T", "end": 743, "endIntronDirection": "+", "endIntronOffset": 176, "referenceAllele": "C", "start": 743, "startIntronDirection": "+", "startIntronOffset": 175 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000640036.1:c.694+176C>T" ], "proteinEffect": { "hgvs": "ENSP00000491573.1:n.694+176C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS765301" }, { "coordinates": [ { "allele": "T", "end": 959, "referenceAllele": "C", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641575.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000492917.1:p.Ser228Leu", "hgvsWellDefined": "ENSP00000492917.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS766184" }, { "coordinates": [ { "allele": "T", "end": 837, "referenceAllele": "C", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641603.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000492945.1:p.Ser228Leu", "hgvsWellDefined": "ENSP00000492945.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS766204" }, { "coordinates": [ { "allele": "T", "end": 952, "referenceAllele": "C", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641996.1:c.*237C>T" ], "proteinEffect": { "hgvs": "ENSP00000493054.1:n.*237C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766485" }, { "coordinates": [ { "allele": "T", "end": 1069, "referenceAllele": "C", "start": 1068 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000671940.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000500336.1:p.Ser228Leu", "hgvsWellDefined": "ENSP00000500336.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS773217" }, { "coordinates": [ { "allele": "T", "end": 3156, "referenceAllele": "C", "start": 3155 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000673490.1:n.3156C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773702" }, { "coordinates": [ { "allele": "T", "end": 1161, "referenceAllele": "C", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000674923.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000501589.1:p.Ser228Leu", "hgvsWellDefined": "ENSP00000501589.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS774809", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.683C>T" }, "RefSeq": { "hgvs": "NM_001165963.4:c.683C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Ser228Leu" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Ser228Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 1101, "referenceAllele": "C", "start": 1100 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.8:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Ser228Leu", "hgvsWellDefined": "ENSP00000303540.4:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS255312" }, { "coordinates": [ { "allele": "T", "end": 701, "referenceAllele": "C", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000375405.7:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000364554.3:p.Ser228Leu", "hgvsWellDefined": "ENSP00000364554.3:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS270694" }, { "coordinates": [ { "allele": "T", "end": 683, "referenceAllele": "C", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000409050.1:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000386312.1:p.Ser228Leu", "hgvsWellDefined": "ENSP00000386312.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS281214" }, { "coordinates": [ { "allele": "T", "end": 759, "referenceAllele": "C", "start": 758 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000423058.6:c.683C>T" ], "proteinEffect": { "hgvs": "ENSP00000407030.2:p.Ser228Leu", "hgvsWellDefined": "ENSP00000407030.2:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS287573" }, { "@id": "http://reg.genome.network/allele/PA2826008978", "coordinates": [ { "allele": "T", "end": 701, "referenceAllele": "C", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.1:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Ser228Leu", "hgvsWellDefined": "NP_001159435.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS014743" }, { "@id": "http://reg.genome.network/allele/PA2826011637", "coordinates": [ { "allele": "T", "end": 701, "referenceAllele": "C", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.1:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Ser228Leu", "hgvsWellDefined": "NP_001159436.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS014744" }, { "@id": "http://reg.genome.network/allele/PA2826258218", "coordinates": [ { "allele": "T", "end": 910, "referenceAllele": "C", "start": 909 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.1:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Ser228Leu", "hgvsWellDefined": "NP_001189364.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS017403" }, { "@id": "http://reg.genome.network/allele/PA915986487", "coordinates": [ { "allele": "T", "end": 701, "referenceAllele": "C", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.4:c.683C>T", "LRG_8t1:c.683C>T" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Ser228Leu", "hgvsWellDefined": "NP_008851.3:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS031895" }, { "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "C", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511598.1:c.683C>T" ], "proteinEffect": { "hgvs": "XP_011509900.1:p.Ser228Leu", "hgvsWellDefined": "XP_011509900.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS078859" }, { "coordinates": [ { "allele": "T", "end": 1082, "referenceAllele": "C", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511599.1:c.683C>T" ], "proteinEffect": { "hgvs": "XP_011509901.1:p.Ser228Leu", "hgvsWellDefined": "XP_011509901.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS078860" }, { "coordinates": [ { "allele": "T", "end": 958, "referenceAllele": "C", "start": 957 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511600.1:c.683C>T" ], "proteinEffect": { "hgvs": "XP_011509902.1:p.Ser228Leu", "hgvsWellDefined": "XP_011509902.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS078861" }, { "coordinates": [ { "allele": "T", "end": 1077, "referenceAllele": "C", "start": 1076 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511601.1:c.683C>T" ], "proteinEffect": { "hgvs": "XP_011509903.1:p.Ser228Leu", "hgvsWellDefined": "XP_011509903.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS078862" }, { "coordinates": [ { "allele": "T", "end": 990, "referenceAllele": "C", "start": 989 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511602.1:c.683C>T" ], "proteinEffect": { "hgvs": "XP_011509904.1:p.Ser228Leu", "hgvsWellDefined": "XP_011509904.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS078863" }, { "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "C", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511603.1:c.683C>T" ], "proteinEffect": { "hgvs": "XP_011509905.1:p.Ser228Leu", "hgvsWellDefined": "XP_011509905.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS078864" }, { "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "C", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511604.1:c.683C>T" ], "proteinEffect": { "hgvs": "XP_011509906.1:p.Ser228Leu", "hgvsWellDefined": "XP_011509906.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS078865" }, { "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "C", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511605.1:c.683C>T" ], "proteinEffect": { "hgvs": "XP_011509907.1:p.Ser228Leu", "hgvsWellDefined": "XP_011509907.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS078866" }, { "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "C", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511606.1:c.683C>T" ], "proteinEffect": { "hgvs": "XP_011509908.1:p.Ser228Leu", "hgvsWellDefined": "XP_011509908.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS078867" }, { "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "C", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511607.1:c.683C>T" ], "proteinEffect": { "hgvs": "XP_011509909.1:p.Ser228Leu", "hgvsWellDefined": "XP_011509909.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS078868" }, { "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "C", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_922981.1:n.867C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS120043" }, { "@id": "http://reg.genome.network/allele/PA2826008978", "coordinates": [ { "allele": "T", "end": 1180, "referenceAllele": "C", "start": 1179 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.2:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Ser228Leu", "hgvsWellDefined": "NP_001159435.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511667" }, { "@id": "http://reg.genome.network/allele/PA2826011637", "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.2:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Ser228Leu", "hgvsWellDefined": "NP_001159436.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511668" }, { "@id": "http://reg.genome.network/allele/PA2826258218", "coordinates": [ { "allele": "T", "end": 994, "referenceAllele": "C", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.2:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Ser228Leu", "hgvsWellDefined": "NP_001189364.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511850" }, { "@id": "http://reg.genome.network/allele/PA2827749728", "coordinates": [ { "allele": "T", "end": 1001, "referenceAllele": "C", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.1:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Ser228Leu", "hgvsWellDefined": "NP_001340877.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522051" }, { "@id": "http://reg.genome.network/allele/PA2827756368", "coordinates": [ { "allele": "T", "end": 902, "referenceAllele": "C", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.1:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Ser228Leu", "hgvsWellDefined": "NP_001340878.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522052" }, { "@id": "http://reg.genome.network/allele/PA2827762990", "coordinates": [ { "allele": "T", "end": 994, "referenceAllele": "C", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.1:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Ser228Leu", "hgvsWellDefined": "NP_001340879.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522053" }, { "@id": "http://reg.genome.network/allele/PA2827769533", "coordinates": [ { "allele": "T", "end": 1001, "referenceAllele": "C", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.1:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Ser228Leu", "hgvsWellDefined": "NP_001340880.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522054" }, { "@id": "http://reg.genome.network/allele/PA2827772582", "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.1:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Ser228Leu", "hgvsWellDefined": "NP_001340881.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522055" }, { "@id": "http://reg.genome.network/allele/PA2827775570", "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.1:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Ser228Leu", "hgvsWellDefined": "NP_001340883.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522056" }, { "@id": "http://reg.genome.network/allele/PA2827778556", "coordinates": [ { "allele": "T", "end": 1001, "referenceAllele": "C", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.1:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Ser228Leu", "hgvsWellDefined": "NP_001340884.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522057" }, { "@id": "http://reg.genome.network/allele/PA2827781542", "coordinates": [ { "allele": "T", "end": 1001, "referenceAllele": "C", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.1:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Ser228Leu", "hgvsWellDefined": "NP_001340886.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522058" }, { "@id": "http://reg.genome.network/allele/PA2827784514", "coordinates": [ { "allele": "T", "end": 994, "referenceAllele": "C", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.1:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Ser228Leu", "hgvsWellDefined": "NP_001340887.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522059" }, { "@id": "http://reg.genome.network/allele/PA2827787476", "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.1:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Ser228Leu", "hgvsWellDefined": "NP_001340889.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522060" }, { "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.1:c.-1743C>T" ], "proteinEffect": { "hgvs": "NP_001340890.1:n.-1743C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522061" }, { "@id": "http://reg.genome.network/allele/PA915986487", "coordinates": [ { "allele": "T", "end": 1180, "referenceAllele": "C", "start": 1179 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.5:c.683C>T" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Ser228Leu", "hgvsWellDefined": "NP_008851.3:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS525436" }, { "coordinates": [ { "allele": "T", "end": 1088, "referenceAllele": "C", "start": 1087 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.1:n.1088C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531272" }, { "coordinates": [ { "allele": "T", "end": 1069, "referenceAllele": "C", "start": 1068 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738883.1:n.1069C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589320" }, { "coordinates": [ { "allele": "T", "end": 1074, "referenceAllele": "C", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738884.1:n.1074C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589321" }, { "@id": "http://reg.genome.network/allele/PA2826008978", "coordinates": [ { "allele": "T", "end": 1161, "referenceAllele": "C", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.3:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Ser228Leu", "hgvsWellDefined": "NP_001159435.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS678433" }, { "@id": "http://reg.genome.network/allele/PA2826011637", "coordinates": [ { "allele": "T", "end": 1074, "referenceAllele": "C", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.3:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Ser228Leu", "hgvsWellDefined": "NP_001159436.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS678434" }, { "@id": "http://reg.genome.network/allele/PA2826258218", "coordinates": [ { "allele": "T", "end": 939, "referenceAllele": "C", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.3:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Ser228Leu", "hgvsWellDefined": "NP_001189364.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS679700" }, { "@id": "http://reg.genome.network/allele/PA2827749728", "coordinates": [ { "allele": "T", "end": 982, "referenceAllele": "C", "start": 981 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.2:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Ser228Leu", "hgvsWellDefined": "NP_001340877.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS689996" }, { "@id": "http://reg.genome.network/allele/PA2827756368", "coordinates": [ { "allele": "T", "end": 847, "referenceAllele": "C", "start": 846 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.2:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Ser228Leu", "hgvsWellDefined": "NP_001340878.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS689997" }, { "@id": "http://reg.genome.network/allele/PA2827762990", "coordinates": [ { "allele": "T", "end": 939, "referenceAllele": "C", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.2:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Ser228Leu", "hgvsWellDefined": "NP_001340879.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS689998" }, { "@id": "http://reg.genome.network/allele/PA2827769533", "coordinates": [ { "allele": "T", "end": 982, "referenceAllele": "C", "start": 981 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.2:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Ser228Leu", "hgvsWellDefined": "NP_001340880.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS689999" }, { "@id": "http://reg.genome.network/allele/PA2827772582", "coordinates": [ { "allele": "T", "end": 1074, "referenceAllele": "C", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.2:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Ser228Leu", "hgvsWellDefined": "NP_001340881.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690000" }, { "@id": "http://reg.genome.network/allele/PA2827775570", "coordinates": [ { "allele": "T", "end": 1074, "referenceAllele": "C", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.2:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Ser228Leu", "hgvsWellDefined": "NP_001340883.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690001" }, { "@id": "http://reg.genome.network/allele/PA2827778556", "coordinates": [ { "allele": "T", "end": 982, "referenceAllele": "C", "start": 981 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.2:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Ser228Leu", "hgvsWellDefined": "NP_001340884.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690002" }, { "@id": "http://reg.genome.network/allele/PA2827781542", "coordinates": [ { "allele": "T", "end": 982, "referenceAllele": "C", "start": 981 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.2:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Ser228Leu", "hgvsWellDefined": "NP_001340886.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690003" }, { "@id": "http://reg.genome.network/allele/PA2827784514", "coordinates": [ { "allele": "T", "end": 939, "referenceAllele": "C", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.2:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Ser228Leu", "hgvsWellDefined": "NP_001340887.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690004" }, { "@id": "http://reg.genome.network/allele/PA2827787476", "coordinates": [ { "allele": "T", "end": 1074, "referenceAllele": "C", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.2:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Ser228Leu", "hgvsWellDefined": "NP_001340889.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690005" }, { "coordinates": [ { "allele": "T", "end": 1074, "referenceAllele": "C", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.2:c.-1743C>T" ], "proteinEffect": { "hgvs": "NP_001340890.1:n.-1743C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS690006" }, { "@id": "http://reg.genome.network/allele/PA915986487", "coordinates": [ { "allele": "T", "end": 1161, "referenceAllele": "C", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.6:c.683C>T" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Ser228Leu", "hgvsWellDefined": "NP_008851.3:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS696855" }, { "coordinates": [ { "allele": "T", "end": 1069, "referenceAllele": "C", "start": 1068 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.2:n.1069C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704821" }, { "@id": "http://reg.genome.network/allele/PA2826008978", "coordinates": [ { "allele": "T", "end": 1161, "referenceAllele": "C", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.4:c.683C>T" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Ser228Leu", "hgvsWellDefined": "NP_001159435.1:p.Ser228Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS713154", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.683C>T" }, "RefSeq": { "hgvs": "NM_001165963.4:c.683C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Ser228Leu" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Ser228Leu" } } } } ], "type": "nucleotide" }