{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA285177", "communityStandardTitle": [ "NM_001165963.4(SCN1A):c.4541T>C (p.Leu1514Ser)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79527[alleleid]", "alleleId": 79527, "preferredName": "NM_001165963.4(SCN1A):c.4541T>C (p.Leu1514Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68635", "RCV": [ "RCV000059514", "RCV000517134", "RCV001296129" ], "variationId": 68635 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166852563A>G?assembly=hg19", "id": "chr2:g.166852563A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.165996053A>G?assembly=hg38", "id": "chr2:g.165996053A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121918764", "rs": 121918764 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "G", "end": 165996053, "referenceAllele": "A", "start": 165996052 } ], "hgvs": [ "NC_000002.12:g.165996053A>G", "CM000664.2:g.165996053A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "G", "end": 166852563, "referenceAllele": "A", "start": 166852562 } ], "hgvs": [ "NC_000002.11:g.166852563A>G", "CM000664.1:g.166852563A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "G", "end": 166560809, "referenceAllele": "A", "start": 166560808 } ], "hgvs": [ "NC_000002.10:g.166560809A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "C", "end": 82587, "referenceAllele": "T", "start": 82586 } ], "hgvs": [ "NG_011906.1:g.82587T>C", "LRG_8:g.82587T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS002054" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 4684, "referenceAllele": "T", "start": 4683 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000689288.1:c.*2577T>C" ], "proteinEffect": { "hgvs": "ENSP00000509637.1:n.*2577T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS832093" }, { "coordinates": [ { "allele": "C", "end": 4932, "referenceAllele": "T", "start": 4931 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.9:c.4541T>C" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Leu1514Ser", "hgvsWellDefined": "ENSP00000303540.4:p.Leu1514Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS745029" }, { "coordinates": [ { "allele": "C", "end": 4725, "referenceAllele": "T", "start": 4724 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635750.1:c.4508T>C" ], "proteinEffect": { "hgvs": "ENSP00000490799.1:p.Leu1503Ser", "hgvsWellDefined": "ENSP00000490799.1:p.Leu1503Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS762613" }, { "coordinates": [ { "allele": "C", "end": 4810, "referenceAllele": "T", "start": 4809 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635776.1:c.4508T>C" ], "proteinEffect": { "hgvs": "ENSP00000490692.1:p.Leu1503Ser", "hgvsWellDefined": "ENSP00000490692.1:p.Leu1503Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS762634" }, { "coordinates": [ { "allele": "C", "end": 4934, "referenceAllele": "T", "start": 4933 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000636194.1:c.*2034T>C" ], "proteinEffect": { "hgvs": "ENSP00000490288.1:n.*2034T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS762941" }, { "coordinates": [ { "allele": "C", "end": 1403, "referenceAllele": "T", "start": 1402 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637038.1:c.1403T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS763565" }, { "coordinates": [ { "allele": "C", "end": 4988, "referenceAllele": "T", "start": 4987 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637988.1:c.4508T>C" ], "proteinEffect": { "hgvs": "ENSP00000490780.1:p.Leu1503Ser", "hgvsWellDefined": "ENSP00000490780.1:p.Leu1503Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS764260" }, { "coordinates": [ { "allele": "C", "end": 4557, "referenceAllele": "T", "start": 4556 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000640036.1:c.4508T>C" ], "proteinEffect": { "hgvs": "ENSP00000491573.1:p.Leu1503Ser", "hgvsWellDefined": "ENSP00000491573.1:p.Leu1503Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS765301" }, { "coordinates": [ { "allele": "C", "end": 4781, "referenceAllele": "T", "start": 4780 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641575.1:c.4505T>C" ], "proteinEffect": { "hgvs": "ENSP00000492917.1:p.Leu1502Ser", "hgvsWellDefined": "ENSP00000492917.1:p.Leu1502Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS766184" }, { "coordinates": [ { "allele": "C", "end": 4413, "referenceAllele": "T", "start": 4412 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641603.1:c.4259T>C" ], "proteinEffect": { "hgvs": "ENSP00000492945.1:p.Leu1420Ser", "hgvsWellDefined": "ENSP00000492945.1:p.Leu1420Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS766204" }, { "coordinates": [ { "allele": "C", "end": 4810, "referenceAllele": "T", "start": 4809 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641996.1:c.*4095T>C" ], "proteinEffect": { "hgvs": "ENSP00000493054.1:n.*4095T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS766485" }, { "coordinates": [ { "allele": "C", "end": 4760, "referenceAllele": "T", "start": 4759 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000671940.1:c.*2484T>C" ], "proteinEffect": { "hgvs": "ENSP00000500336.1:n.*2484T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS773217" }, { "coordinates": [ { "allele": "C", "end": 7014, "referenceAllele": "T", "start": 7013 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000673490.1:n.7014T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS773702" }, { "coordinates": [ { "allele": "C", "end": 5019, "referenceAllele": "T", "start": 5018 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000674923.1:c.4541T>C" ], "proteinEffect": { "hgvs": "ENSP00000501589.1:p.Leu1514Ser", "hgvsWellDefined": "ENSP00000501589.1:p.Leu1514Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS774809", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.4541T>C" }, "RefSeq": { "hgvs": "NM_001165963.4:c.4541T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Leu1514Ser" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Leu1514Ser" } } } }, { "coordinates": [ { "allele": "C", "end": 4959, "referenceAllele": "T", "start": 4958 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.8:c.4541T>C" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Leu1514Ser", "hgvsWellDefined": "ENSP00000303540.4:p.Leu1514Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS255312" }, { "coordinates": [ { "allele": "C", "end": 4526, "referenceAllele": "T", "start": 4525 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000375405.7:c.4508T>C" ], "proteinEffect": { "hgvs": "ENSP00000364554.3:p.Leu1503Ser", "hgvsWellDefined": "ENSP00000364554.3:p.Leu1503Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS270694" }, { "coordinates": [ { "allele": "C", "end": 4457, "referenceAllele": "T", "start": 4456 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000409050.1:c.4457T>C" ], "proteinEffect": { "hgvs": "ENSP00000386312.1:p.Leu1486Ser", "hgvsWellDefined": "ENSP00000386312.1:p.Leu1486Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS281214" }, { "coordinates": [ { "allele": "C", "end": 4617, "referenceAllele": "T", "start": 4616 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000423058.6:c.4541T>C" ], "proteinEffect": { "hgvs": "ENSP00000407030.2:p.Leu1514Ser", "hgvsWellDefined": "ENSP00000407030.2:p.Leu1514Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS287573" }, { "coordinates": [ { "allele": "C", "end": 544, "referenceAllele": "T", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000473295.2:n.544T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS315079" }, { "coordinates": [ { "allele": "C", "end": 270, "referenceAllele": "T", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000625916.1:n.270T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS406645" }, { "@id": "http://reg.genome.network/allele/PA107929", "coordinates": [ { "allele": "C", "end": 4559, "referenceAllele": "T", "start": 4558 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.1:c.4541T>C" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Leu1514Ser", "hgvsWellDefined": "NP_001159435.1:p.Leu1514Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS014743" }, { "@id": "http://reg.genome.network/allele/PA2826013484", "coordinates": [ { "allele": "C", "end": 4475, "referenceAllele": "T", "start": 4474 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.1:c.4457T>C" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Leu1486Ser", "hgvsWellDefined": "NP_001159436.1:p.Leu1486Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS014744" }, { "@id": "http://reg.genome.network/allele/PA2826260087", "coordinates": [ { "allele": "C", "end": 4768, "referenceAllele": "T", "start": 4767 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.1:c.4541T>C" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Leu1514Ser", "hgvsWellDefined": "NP_001189364.1:p.Leu1514Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS017403" }, { "@id": "http://reg.genome.network/allele/PA285179", "coordinates": [ { "allele": "C", "end": 4526, "referenceAllele": "T", "start": 4525 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.4:c.4508T>C", "LRG_8t1:c.4508T>C" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Leu1503Ser", "hgvsWellDefined": "NP_008851.3:p.Leu1503Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS031895" }, { "coordinates": [ { "allele": "G", "end": 175, "endIntronDirection": "-", "endIntronOffset": 19559, "referenceAllele": "A", "start": 175, "startIntronDirection": "-", "startIntronOffset": 19560 } ], "hgvs": [ "NR_110598.1:n.176-19560A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS054761" }, { "coordinates": [ { "allele": "C", "end": 4725, "referenceAllele": "T", "start": 4724 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511598.1:c.4541T>C" ], "proteinEffect": { "hgvs": "XP_011509900.1:p.Leu1514Ser", "hgvsWellDefined": "XP_011509900.1:p.Leu1514Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS078859" }, { "coordinates": [ { "allele": "C", "end": 4940, "referenceAllele": "T", "start": 4939 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511599.1:c.4541T>C" ], "proteinEffect": { "hgvs": "XP_011509901.1:p.Leu1514Ser", "hgvsWellDefined": "XP_011509901.1:p.Leu1514Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS078860" }, { "coordinates": [ { "allele": "C", "end": 4816, "referenceAllele": "T", "start": 4815 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511600.1:c.4541T>C" ], "proteinEffect": { "hgvs": "XP_011509902.1:p.Leu1514Ser", "hgvsWellDefined": "XP_011509902.1:p.Leu1514Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS078861" }, { "coordinates": [ { "allele": "C", "end": 4935, "referenceAllele": "T", "start": 4934 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511601.1:c.4541T>C" ], "proteinEffect": { "hgvs": "XP_011509903.1:p.Leu1514Ser", "hgvsWellDefined": "XP_011509903.1:p.Leu1514Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS078862" }, { "coordinates": [ { "allele": "C", "end": 4848, "referenceAllele": "T", "start": 4847 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511602.1:c.4541T>C" ], "proteinEffect": { "hgvs": "XP_011509904.1:p.Leu1514Ser", "hgvsWellDefined": "XP_011509904.1:p.Leu1514Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS078863" }, { "coordinates": [ { "allele": "C", "end": 4722, "referenceAllele": "T", "start": 4721 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511603.1:c.4538T>C" ], "proteinEffect": { "hgvs": "XP_011509905.1:p.Leu1513Ser", "hgvsWellDefined": "XP_011509905.1:p.Leu1513Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS078864" }, { "coordinates": [ { "allele": "C", "end": 4692, "referenceAllele": "T", "start": 4691 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511604.1:c.4508T>C" ], "proteinEffect": { "hgvs": "XP_011509906.1:p.Leu1503Ser", "hgvsWellDefined": "XP_011509906.1:p.Leu1503Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS078865" }, { "coordinates": [ { "allele": "C", "end": 4689, "referenceAllele": "T", "start": 4688 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511605.1:c.4505T>C" ], "proteinEffect": { "hgvs": "XP_011509907.1:p.Leu1502Ser", "hgvsWellDefined": "XP_011509907.1:p.Leu1502Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS078866" }, { "coordinates": [ { "allele": "C", "end": 4641, "referenceAllele": "T", "start": 4640 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511606.1:c.4457T>C" ], "proteinEffect": { "hgvs": "XP_011509908.1:p.Leu1486Ser", "hgvsWellDefined": "XP_011509908.1:p.Leu1486Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS078867" }, { "coordinates": [ { "allele": "C", "end": 4443, "referenceAllele": "T", "start": 4442 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511607.1:c.4259T>C" ], "proteinEffect": { "hgvs": "XP_011509909.1:p.Leu1420Ser", "hgvsWellDefined": "XP_011509909.1:p.Leu1420Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS078868" }, { "@id": "http://reg.genome.network/allele/PA107929", "coordinates": [ { "allele": "C", "end": 5038, "referenceAllele": "T", "start": 5037 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.2:c.4541T>C" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Leu1514Ser", "hgvsWellDefined": "NP_001159435.1:p.Leu1514Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511667" }, { "@id": "http://reg.genome.network/allele/PA2826013484", "coordinates": [ { "allele": "C", "end": 4867, "referenceAllele": "T", "start": 4866 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.2:c.4457T>C" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Leu1486Ser", "hgvsWellDefined": "NP_001159436.1:p.Leu1486Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511668" }, { "@id": "http://reg.genome.network/allele/PA2826260087", "coordinates": [ { "allele": "C", "end": 4852, "referenceAllele": "T", "start": 4851 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.2:c.4541T>C" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Leu1514Ser", "hgvsWellDefined": "NP_001189364.1:p.Leu1514Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511850" }, { "@id": "http://reg.genome.network/allele/PA2827753916", "coordinates": [ { "allele": "C", "end": 4859, "referenceAllele": "T", "start": 4858 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.1:c.4541T>C" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Leu1514Ser", "hgvsWellDefined": "NP_001340877.1:p.Leu1514Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522051" }, { "@id": "http://reg.genome.network/allele/PA2827760504", "coordinates": [ { "allele": "C", "end": 4727, "referenceAllele": "T", "start": 4726 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.1:c.4508T>C" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Leu1503Ser", "hgvsWellDefined": "NP_001340878.1:p.Leu1503Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522052" }, { "@id": "http://reg.genome.network/allele/PA2827767089", "coordinates": [ { "allele": "C", "end": 4819, "referenceAllele": "T", "start": 4818 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.1:c.4508T>C" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Leu1503Ser", "hgvsWellDefined": "NP_001340879.1:p.Leu1503Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522053" }, { "@id": "http://reg.genome.network/allele/PA2827771455", "coordinates": [ { "allele": "C", "end": 4826, "referenceAllele": "T", "start": 4825 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.1:c.4508T>C" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Leu1503Ser", "hgvsWellDefined": "NP_001340880.1:p.Leu1503Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522054" }, { "@id": "http://reg.genome.network/allele/PA2827774444", "coordinates": [ { "allele": "C", "end": 4918, "referenceAllele": "T", "start": 4917 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.1:c.4508T>C" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Leu1503Ser", "hgvsWellDefined": "NP_001340881.1:p.Leu1503Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522055" }, { "@id": "http://reg.genome.network/allele/PA2827777430", "coordinates": [ { "allele": "C", "end": 4915, "referenceAllele": "T", "start": 4914 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.1:c.4505T>C" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Leu1502Ser", "hgvsWellDefined": "NP_001340883.1:p.Leu1502Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522056" }, { "@id": "http://reg.genome.network/allele/PA2827780418", "coordinates": [ { "allele": "C", "end": 4823, "referenceAllele": "T", "start": 4822 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.1:c.4505T>C" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Leu1502Ser", "hgvsWellDefined": "NP_001340884.1:p.Leu1502Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522057" }, { "@id": "http://reg.genome.network/allele/PA2827783390", "coordinates": [ { "allele": "C", "end": 4775, "referenceAllele": "T", "start": 4774 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.1:c.4457T>C" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Leu1486Ser", "hgvsWellDefined": "NP_001340886.1:p.Leu1486Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522058" }, { "@id": "http://reg.genome.network/allele/PA2827786351", "coordinates": [ { "allele": "C", "end": 4768, "referenceAllele": "T", "start": 4767 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.1:c.4457T>C" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Leu1486Ser", "hgvsWellDefined": "NP_001340887.1:p.Leu1486Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522059" }, { "@id": "http://reg.genome.network/allele/PA2827789321", "coordinates": [ { "allele": "C", "end": 4864, "referenceAllele": "T", "start": 4863 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.1:c.4454T>C" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Leu1485Ser", "hgvsWellDefined": "NP_001340889.1:p.Leu1485Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522060" }, { "@id": "http://reg.genome.network/allele/PA916036839", "coordinates": [ { "allele": "C", "end": 4934, "referenceAllele": "T", "start": 4933 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.1:c.2099T>C" ], "proteinEffect": { "hgvs": "NP_001340890.1:p.Leu700Ser", "hgvsWellDefined": "NP_001340890.1:p.Leu700Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522061" }, { "@id": "http://reg.genome.network/allele/PA285179", "coordinates": [ { "allele": "C", "end": 5005, "referenceAllele": "T", "start": 5004 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.5:c.4508T>C" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Leu1503Ser", "hgvsWellDefined": "NP_008851.3:p.Leu1503Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS525436" }, { "coordinates": [ { "allele": "C", "end": 4977, "referenceAllele": "T", "start": 4976 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.1:n.4977T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531272" }, { "coordinates": [ { "allele": "C", "end": 4991, "referenceAllele": "T", "start": 4990 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738883.1:n.4991T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS589320" }, { "coordinates": [ { "allele": "C", "end": 4963, "referenceAllele": "T", "start": 4962 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738884.1:n.4963T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS589321" }, { "@id": "http://reg.genome.network/allele/PA107929", "coordinates": [ { "allele": "C", "end": 5019, "referenceAllele": "T", "start": 5018 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.3:c.4541T>C" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Leu1514Ser", "hgvsWellDefined": "NP_001159435.1:p.Leu1514Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS678433" }, { "@id": "http://reg.genome.network/allele/PA2826013484", "coordinates": [ { "allele": "C", "end": 4848, "referenceAllele": "T", "start": 4847 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.3:c.4457T>C" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Leu1486Ser", "hgvsWellDefined": "NP_001159436.1:p.Leu1486Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS678434" }, { "@id": "http://reg.genome.network/allele/PA2826260087", "coordinates": [ { "allele": "C", "end": 4797, "referenceAllele": "T", "start": 4796 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.3:c.4541T>C" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Leu1514Ser", "hgvsWellDefined": "NP_001189364.1:p.Leu1514Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS679700" }, { "@id": "http://reg.genome.network/allele/PA2827753916", "coordinates": [ { "allele": "C", "end": 4840, "referenceAllele": "T", "start": 4839 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.2:c.4541T>C" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Leu1514Ser", "hgvsWellDefined": "NP_001340877.1:p.Leu1514Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS689996" }, { "@id": "http://reg.genome.network/allele/PA2827760504", "coordinates": [ { "allele": "C", "end": 4672, "referenceAllele": "T", "start": 4671 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.2:c.4508T>C" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Leu1503Ser", "hgvsWellDefined": "NP_001340878.1:p.Leu1503Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS689997" }, { "@id": "http://reg.genome.network/allele/PA2827767089", "coordinates": [ { "allele": "C", "end": 4764, "referenceAllele": "T", "start": 4763 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.2:c.4508T>C" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Leu1503Ser", "hgvsWellDefined": "NP_001340879.1:p.Leu1503Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS689998" }, { "@id": "http://reg.genome.network/allele/PA2827771455", "coordinates": [ { "allele": "C", "end": 4807, "referenceAllele": "T", "start": 4806 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.2:c.4508T>C" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Leu1503Ser", "hgvsWellDefined": "NP_001340880.1:p.Leu1503Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS689999" }, { "@id": "http://reg.genome.network/allele/PA2827774444", "coordinates": [ { "allele": "C", "end": 4899, "referenceAllele": "T", "start": 4898 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.2:c.4508T>C" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Leu1503Ser", "hgvsWellDefined": "NP_001340881.1:p.Leu1503Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS690000" }, { "@id": "http://reg.genome.network/allele/PA2827777430", "coordinates": [ { "allele": "C", "end": 4896, "referenceAllele": "T", "start": 4895 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.2:c.4505T>C" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Leu1502Ser", "hgvsWellDefined": "NP_001340883.1:p.Leu1502Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS690001" }, { "@id": "http://reg.genome.network/allele/PA2827780418", "coordinates": [ { "allele": "C", "end": 4804, "referenceAllele": "T", "start": 4803 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.2:c.4505T>C" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Leu1502Ser", "hgvsWellDefined": "NP_001340884.1:p.Leu1502Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS690002" }, { "@id": "http://reg.genome.network/allele/PA2827783390", "coordinates": [ { "allele": "C", "end": 4756, "referenceAllele": "T", "start": 4755 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.2:c.4457T>C" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Leu1486Ser", "hgvsWellDefined": "NP_001340886.1:p.Leu1486Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS690003" }, { "@id": "http://reg.genome.network/allele/PA2827786351", "coordinates": [ { "allele": "C", "end": 4713, "referenceAllele": "T", "start": 4712 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.2:c.4457T>C" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Leu1486Ser", "hgvsWellDefined": "NP_001340887.1:p.Leu1486Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS690004" }, { "@id": "http://reg.genome.network/allele/PA2827789321", "coordinates": [ { "allele": "C", "end": 4845, "referenceAllele": "T", "start": 4844 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.2:c.4454T>C" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Leu1485Ser", "hgvsWellDefined": "NP_001340889.1:p.Leu1485Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS690005" }, { "@id": "http://reg.genome.network/allele/PA916036839", "coordinates": [ { "allele": "C", "end": 4915, "referenceAllele": "T", "start": 4914 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.2:c.2099T>C" ], "proteinEffect": { "hgvs": "NP_001340890.1:p.Leu700Ser", "hgvsWellDefined": "NP_001340890.1:p.Leu700Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS690006" }, { "@id": "http://reg.genome.network/allele/PA285179", "coordinates": [ { "allele": "C", "end": 4986, "referenceAllele": "T", "start": 4985 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.6:c.4508T>C" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Leu1503Ser", "hgvsWellDefined": "NP_008851.3:p.Leu1503Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS696855" }, { "coordinates": [ { "allele": "C", "end": 4958, "referenceAllele": "T", "start": 4957 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.2:n.4958T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704821" }, { "@id": "http://reg.genome.network/allele/PA107929", "coordinates": [ { "allele": "C", "end": 5019, "referenceAllele": "T", "start": 5018 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.4:c.4541T>C" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Leu1514Ser", "hgvsWellDefined": "NP_001159435.1:p.Leu1514Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS713154", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.4541T>C" }, "RefSeq": { "hgvs": "NM_001165963.4:c.4541T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Leu1514Ser" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Leu1514Ser" } } } } ], "type": "nucleotide" }