{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1942737", "communityStandardTitle": [ "NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=440552[alleleid]", "alleleId": 440552, "preferredName": "NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/448255", "RCV": [ "RCV000518137", "RCV000690853", "RCV002289705" ], "variationId": 448255 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-166850721-C-T", "id": "2-166850721-C-T", "variant": "2:166850721 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166850721C>T?assembly=hg19", "id": "chr2:g.166850721C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.165994211C>T?assembly=hg38", "id": "chr2:g.165994211C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/575368466", "rs": 575368466 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-166850721-C-T?dataset=gnomad_r2_1", "id": "2-166850721-C-T", "variant": "2:166850721 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-165994211-C-T?dataset=gnomad_r3", "id": "2-165994211-C-T", "variant": "2:165994211 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-165994211-C-T?dataset=gnomad_r4", "id": "2-165994211-C-T", "variant": "2:165994211 C / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 165994211, "referenceAllele": "C", "start": 165994210 } ], "hgvs": [ "NC_000002.12:g.165994211C>T", "CM000664.2:g.165994211C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166850721, "referenceAllele": "C", "start": 166850720 } ], "hgvs": [ "NC_000002.11:g.166850721C>T", "CM000664.1:g.166850721C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166558967, "referenceAllele": "C", "start": 166558966 } ], "hgvs": [ "NC_000002.10:g.166558967C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 84429, "referenceAllele": "G", "start": 84428 } ], "hgvs": [ "NG_011906.1:g.84429G>A", "LRG_8:g.84429G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002054" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4930, "referenceAllele": "G", "start": 4929 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000689288.1:c.*2823G>A" ], "proteinEffect": { "hgvs": "ENSP00000509637.1:n.*2823G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832093" }, { "coordinates": [ { "allele": "A", "end": 5178, "referenceAllele": "G", "start": 5177 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.9:c.4787G>A" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Arg1596His", "hgvsWellDefined": "ENSP00000303540.4:p.Arg1596His" }, "referenceSequence": "http://reg.genome.network/refseq/RS745029" }, { "coordinates": [ { "allele": "A", "end": 4971, "referenceAllele": "G", "start": 4970 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635750.1:c.4754G>A" ], "proteinEffect": { "hgvs": "ENSP00000490799.1:p.Arg1585His", "hgvsWellDefined": "ENSP00000490799.1:p.Arg1585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS762613" }, { "coordinates": [ { "allele": "A", "end": 5056, "referenceAllele": "G", "start": 5055 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635776.1:c.4754G>A" ], "proteinEffect": { "hgvs": "ENSP00000490692.1:p.Arg1585His", "hgvsWellDefined": "ENSP00000490692.1:p.Arg1585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS762634" }, { "coordinates": [ { "allele": "A", "end": 5180, "referenceAllele": "G", "start": 5179 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000636194.1:c.*2280G>A" ], "proteinEffect": { "hgvs": "ENSP00000490288.1:n.*2280G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS762941" }, { "coordinates": [ { "allele": "A", "end": 1649, "referenceAllele": "G", "start": 1648 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637038.1:c.1649G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763565" }, { "coordinates": [ { "allele": "A", "end": 5234, "referenceAllele": "G", "start": 5233 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637988.1:c.4754G>A" ], "proteinEffect": { "hgvs": "ENSP00000490780.1:p.Arg1585His", "hgvsWellDefined": "ENSP00000490780.1:p.Arg1585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS764260" }, { "coordinates": [ { "allele": "A", "end": 4803, "referenceAllele": "G", "start": 4802 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000640036.1:c.4754G>A" ], "proteinEffect": { "hgvs": "ENSP00000491573.1:p.Arg1585His", "hgvsWellDefined": "ENSP00000491573.1:p.Arg1585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS765301" }, { "coordinates": [ { "allele": "A", "end": 5027, "referenceAllele": "G", "start": 5026 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641575.1:c.4751G>A" ], "proteinEffect": { "hgvs": "ENSP00000492917.1:p.Arg1584His", "hgvsWellDefined": "ENSP00000492917.1:p.Arg1584His" }, "referenceSequence": "http://reg.genome.network/refseq/RS766184" }, { "coordinates": [ { "allele": "A", "end": 4659, "referenceAllele": "G", "start": 4658 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641603.1:c.4505G>A" ], "proteinEffect": { "hgvs": "ENSP00000492945.1:p.Arg1502His", "hgvsWellDefined": "ENSP00000492945.1:p.Arg1502His" }, "referenceSequence": "http://reg.genome.network/refseq/RS766204" }, { "coordinates": [ { "allele": "A", "end": 5056, "referenceAllele": "G", "start": 5055 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641996.1:c.*4341G>A" ], "proteinEffect": { "hgvs": "ENSP00000493054.1:n.*4341G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS766485" }, { "coordinates": [ { "allele": "A", "end": 5006, "referenceAllele": "G", "start": 5005 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000671940.1:c.*2730G>A" ], "proteinEffect": { "hgvs": "ENSP00000500336.1:n.*2730G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773217" }, { "coordinates": [ { "allele": "A", "end": 7260, "referenceAllele": "G", "start": 7259 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000673490.1:n.7260G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773702" }, { "coordinates": [ { "allele": "A", "end": 5265, "referenceAllele": "G", "start": 5264 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000674923.1:c.4787G>A" ], "proteinEffect": { "hgvs": "ENSP00000501589.1:p.Arg1596His", "hgvsWellDefined": "ENSP00000501589.1:p.Arg1596His" }, "referenceSequence": "http://reg.genome.network/refseq/RS774809", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.4787G>A" }, "RefSeq": { "hgvs": "NM_001165963.4:c.4787G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Arg1596His" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Arg1596His" } } } }, { "coordinates": [ { "allele": "A", "end": 5205, "referenceAllele": "G", "start": 5204 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.8:c.4787G>A" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Arg1596His", "hgvsWellDefined": "ENSP00000303540.4:p.Arg1596His" }, "referenceSequence": "http://reg.genome.network/refseq/RS255312" }, { "coordinates": [ { "allele": "A", "end": 4772, "referenceAllele": "G", "start": 4771 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000375405.7:c.4754G>A" ], "proteinEffect": { "hgvs": "ENSP00000364554.3:p.Arg1585His", "hgvsWellDefined": "ENSP00000364554.3:p.Arg1585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS270694" }, { "coordinates": [ { "allele": "A", "end": 4703, "referenceAllele": "G", "start": 4702 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000409050.1:c.4703G>A" ], "proteinEffect": { "hgvs": "ENSP00000386312.1:p.Arg1568His", "hgvsWellDefined": "ENSP00000386312.1:p.Arg1568His" }, "referenceSequence": "http://reg.genome.network/refseq/RS281214" }, { "coordinates": [ { "allele": "A", "end": 4863, "referenceAllele": "G", "start": 4862 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000423058.6:c.4787G>A" ], "proteinEffect": { "hgvs": "ENSP00000407030.2:p.Arg1596His", "hgvsWellDefined": "ENSP00000407030.2:p.Arg1596His" }, "referenceSequence": "http://reg.genome.network/refseq/RS287573" }, { "coordinates": [ { "allele": "A", "end": 516, "referenceAllele": "G", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000625916.1:n.516G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS406645" }, { "@id": "http://reg.genome.network/allele/PA658659573", "coordinates": [ { "allele": "A", "end": 4805, "referenceAllele": "G", "start": 4804 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.1:c.4787G>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Arg1596His", "hgvsWellDefined": "NP_001159435.1:p.Arg1596His" }, "referenceSequence": "http://reg.genome.network/refseq/RS014743" }, { "@id": "http://reg.genome.network/allele/PA2826013607", "coordinates": [ { "allele": "A", "end": 4721, "referenceAllele": "G", "start": 4720 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.1:c.4703G>A" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Arg1568His", "hgvsWellDefined": "NP_001159436.1:p.Arg1568His" }, "referenceSequence": "http://reg.genome.network/refseq/RS014744" }, { "@id": "http://reg.genome.network/allele/PA2826260209", "coordinates": [ { "allele": "A", "end": 5014, "referenceAllele": "G", "start": 5013 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.1:c.4787G>A" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Arg1596His", "hgvsWellDefined": "NP_001189364.1:p.Arg1596His" }, "referenceSequence": "http://reg.genome.network/refseq/RS017403" }, { "@id": "http://reg.genome.network/allele/PA2829676213", "coordinates": [ { "allele": "A", "end": 4772, "referenceAllele": "G", "start": 4771 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.4:c.4754G>A", "LRG_8t1:c.4754G>A" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Arg1585His", "hgvsWellDefined": "NP_008851.3:p.Arg1585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS031895" }, { "coordinates": [ { "allele": "T", "end": 175, "endIntronDirection": "-", "endIntronOffset": 21401, "referenceAllele": "C", "start": 175, "startIntronDirection": "-", "startIntronOffset": 21402 } ], "hgvs": [ "NR_110598.1:n.176-21402C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS054761" }, { "coordinates": [ { "allele": "A", "end": 4971, "referenceAllele": "G", "start": 4970 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511598.1:c.4787G>A" ], "proteinEffect": { "hgvs": "XP_011509900.1:p.Arg1596His", "hgvsWellDefined": "XP_011509900.1:p.Arg1596His" }, "referenceSequence": "http://reg.genome.network/refseq/RS078859" }, { "coordinates": [ { "allele": "A", "end": 5186, "referenceAllele": "G", "start": 5185 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511599.1:c.4787G>A" ], "proteinEffect": { "hgvs": "XP_011509901.1:p.Arg1596His", "hgvsWellDefined": "XP_011509901.1:p.Arg1596His" }, "referenceSequence": "http://reg.genome.network/refseq/RS078860" }, { "coordinates": [ { "allele": "A", "end": 5062, "referenceAllele": "G", "start": 5061 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511600.1:c.4787G>A" ], "proteinEffect": { "hgvs": "XP_011509902.1:p.Arg1596His", "hgvsWellDefined": "XP_011509902.1:p.Arg1596His" }, "referenceSequence": "http://reg.genome.network/refseq/RS078861" }, { "coordinates": [ { "allele": "A", "end": 5181, "referenceAllele": "G", "start": 5180 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511601.1:c.4787G>A" ], "proteinEffect": { "hgvs": "XP_011509903.1:p.Arg1596His", "hgvsWellDefined": "XP_011509903.1:p.Arg1596His" }, "referenceSequence": "http://reg.genome.network/refseq/RS078862" }, { "coordinates": [ { "allele": "A", "end": 5094, "referenceAllele": "G", "start": 5093 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511602.1:c.4787G>A" ], "proteinEffect": { "hgvs": "XP_011509904.1:p.Arg1596His", "hgvsWellDefined": "XP_011509904.1:p.Arg1596His" }, "referenceSequence": "http://reg.genome.network/refseq/RS078863" }, { "coordinates": [ { "allele": "A", "end": 4968, "referenceAllele": "G", "start": 4967 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511603.1:c.4784G>A" ], "proteinEffect": { "hgvs": "XP_011509905.1:p.Arg1595His", "hgvsWellDefined": "XP_011509905.1:p.Arg1595His" }, "referenceSequence": "http://reg.genome.network/refseq/RS078864" }, { "coordinates": [ { "allele": "A", "end": 4938, "referenceAllele": "G", "start": 4937 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511604.1:c.4754G>A" ], "proteinEffect": { "hgvs": "XP_011509906.1:p.Arg1585His", "hgvsWellDefined": "XP_011509906.1:p.Arg1585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS078865" }, { "coordinates": [ { "allele": "A", "end": 4935, "referenceAllele": "G", "start": 4934 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511605.1:c.4751G>A" ], "proteinEffect": { "hgvs": "XP_011509907.1:p.Arg1584His", "hgvsWellDefined": "XP_011509907.1:p.Arg1584His" }, "referenceSequence": "http://reg.genome.network/refseq/RS078866" }, { "coordinates": [ { "allele": "A", "end": 4887, "referenceAllele": "G", "start": 4886 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511606.1:c.4703G>A" ], "proteinEffect": { "hgvs": "XP_011509908.1:p.Arg1568His", "hgvsWellDefined": "XP_011509908.1:p.Arg1568His" }, "referenceSequence": "http://reg.genome.network/refseq/RS078867" }, { "coordinates": [ { "allele": "A", "end": 4689, "referenceAllele": "G", "start": 4688 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511607.1:c.4505G>A" ], "proteinEffect": { "hgvs": "XP_011509909.1:p.Arg1502His", "hgvsWellDefined": "XP_011509909.1:p.Arg1502His" }, "referenceSequence": "http://reg.genome.network/refseq/RS078868" }, { "@id": "http://reg.genome.network/allele/PA658659573", "coordinates": [ { "allele": "A", "end": 5284, "referenceAllele": "G", "start": 5283 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.2:c.4787G>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Arg1596His", "hgvsWellDefined": "NP_001159435.1:p.Arg1596His" }, "referenceSequence": "http://reg.genome.network/refseq/RS511667" }, { "@id": "http://reg.genome.network/allele/PA2826013607", "coordinates": [ { "allele": "A", "end": 5113, "referenceAllele": "G", "start": 5112 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.2:c.4703G>A" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Arg1568His", "hgvsWellDefined": "NP_001159436.1:p.Arg1568His" }, "referenceSequence": "http://reg.genome.network/refseq/RS511668" }, { "@id": "http://reg.genome.network/allele/PA2826260209", "coordinates": [ { "allele": "A", "end": 5098, "referenceAllele": "G", "start": 5097 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.2:c.4787G>A" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Arg1596His", "hgvsWellDefined": "NP_001189364.1:p.Arg1596His" }, "referenceSequence": "http://reg.genome.network/refseq/RS511850" }, { "@id": "http://reg.genome.network/allele/PA2827754201", "coordinates": [ { "allele": "A", "end": 5105, "referenceAllele": "G", "start": 5104 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.1:c.4787G>A" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Arg1596His", "hgvsWellDefined": "NP_001340877.1:p.Arg1596His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522051" }, { "@id": "http://reg.genome.network/allele/PA2827760792", "coordinates": [ { "allele": "A", "end": 4973, "referenceAllele": "G", "start": 4972 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.1:c.4754G>A" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Arg1585His", "hgvsWellDefined": "NP_001340878.1:p.Arg1585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522052" }, { "@id": "http://reg.genome.network/allele/PA2827767330", "coordinates": [ { "allele": "A", "end": 5065, "referenceAllele": "G", "start": 5064 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.1:c.4754G>A" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Arg1585His", "hgvsWellDefined": "NP_001340879.1:p.Arg1585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522053" }, { "@id": "http://reg.genome.network/allele/PA2827771578", "coordinates": [ { "allele": "A", "end": 5072, "referenceAllele": "G", "start": 5071 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.1:c.4754G>A" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Arg1585His", "hgvsWellDefined": "NP_001340880.1:p.Arg1585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522054" }, { "@id": "http://reg.genome.network/allele/PA2827774567", "coordinates": [ { "allele": "A", "end": 5164, "referenceAllele": "G", "start": 5163 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.1:c.4754G>A" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Arg1585His", "hgvsWellDefined": "NP_001340881.1:p.Arg1585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522055" }, { "@id": "http://reg.genome.network/allele/PA2827777554", "coordinates": [ { "allele": "A", "end": 5161, "referenceAllele": "G", "start": 5160 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.1:c.4751G>A" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Arg1584His", "hgvsWellDefined": "NP_001340883.1:p.Arg1584His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522056" }, { "@id": "http://reg.genome.network/allele/PA2827780541", "coordinates": [ { "allele": "A", "end": 5069, "referenceAllele": "G", "start": 5068 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.1:c.4751G>A" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Arg1584His", "hgvsWellDefined": "NP_001340884.1:p.Arg1584His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522057" }, { "@id": "http://reg.genome.network/allele/PA2827783513", "coordinates": [ { "allele": "A", "end": 5021, "referenceAllele": "G", "start": 5020 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.1:c.4703G>A" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Arg1568His", "hgvsWellDefined": "NP_001340886.1:p.Arg1568His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522058" }, { "@id": "http://reg.genome.network/allele/PA2827786475", "coordinates": [ { "allele": "A", "end": 5014, "referenceAllele": "G", "start": 5013 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.1:c.4703G>A" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Arg1568His", "hgvsWellDefined": "NP_001340887.1:p.Arg1568His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522059" }, { "@id": "http://reg.genome.network/allele/PA2827789444", "coordinates": [ { "allele": "A", "end": 5110, "referenceAllele": "G", "start": 5109 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.1:c.4700G>A" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Arg1567His", "hgvsWellDefined": "NP_001340889.1:p.Arg1567His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522060" }, { "@id": "http://reg.genome.network/allele/PA916036877", "coordinates": [ { "allele": "A", "end": 5180, "referenceAllele": "G", "start": 5179 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.1:c.2345G>A" ], "proteinEffect": { "hgvs": "NP_001340890.1:p.Arg782His", "hgvsWellDefined": "NP_001340890.1:p.Arg782His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522061" }, { "@id": "http://reg.genome.network/allele/PA2829676213", "coordinates": [ { "allele": "A", "end": 5251, "referenceAllele": "G", "start": 5250 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.5:c.4754G>A" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Arg1585His", "hgvsWellDefined": "NP_008851.3:p.Arg1585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS525436" }, { "coordinates": [ { "allele": "A", "end": 5223, "referenceAllele": "G", "start": 5222 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.1:n.5223G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531272" }, { "coordinates": [ { "allele": "A", "end": 5237, "referenceAllele": "G", "start": 5236 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738883.1:n.5237G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589320" }, { "coordinates": [ { "allele": "A", "end": 5209, "referenceAllele": "G", "start": 5208 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738884.1:n.5209G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589321" }, { "@id": "http://reg.genome.network/allele/PA658659573", "coordinates": [ { "allele": "A", "end": 5265, "referenceAllele": "G", "start": 5264 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.3:c.4787G>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Arg1596His", "hgvsWellDefined": "NP_001159435.1:p.Arg1596His" }, "referenceSequence": "http://reg.genome.network/refseq/RS678433" }, { "@id": "http://reg.genome.network/allele/PA2826013607", "coordinates": [ { "allele": "A", "end": 5094, "referenceAllele": "G", "start": 5093 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.3:c.4703G>A" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Arg1568His", "hgvsWellDefined": "NP_001159436.1:p.Arg1568His" }, "referenceSequence": "http://reg.genome.network/refseq/RS678434" }, { "@id": "http://reg.genome.network/allele/PA2826260209", "coordinates": [ { "allele": "A", "end": 5043, "referenceAllele": "G", "start": 5042 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.3:c.4787G>A" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Arg1596His", "hgvsWellDefined": "NP_001189364.1:p.Arg1596His" }, "referenceSequence": "http://reg.genome.network/refseq/RS679700" }, { "@id": "http://reg.genome.network/allele/PA2827754201", "coordinates": [ { "allele": "A", "end": 5086, "referenceAllele": "G", "start": 5085 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.2:c.4787G>A" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Arg1596His", "hgvsWellDefined": "NP_001340877.1:p.Arg1596His" }, "referenceSequence": "http://reg.genome.network/refseq/RS689996" }, { "@id": "http://reg.genome.network/allele/PA2827760792", "coordinates": [ { "allele": "A", "end": 4918, "referenceAllele": "G", "start": 4917 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.2:c.4754G>A" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Arg1585His", "hgvsWellDefined": "NP_001340878.1:p.Arg1585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS689997" }, { "@id": "http://reg.genome.network/allele/PA2827767330", "coordinates": [ { "allele": "A", "end": 5010, "referenceAllele": "G", "start": 5009 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.2:c.4754G>A" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Arg1585His", "hgvsWellDefined": "NP_001340879.1:p.Arg1585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS689998" }, { "@id": "http://reg.genome.network/allele/PA2827771578", "coordinates": [ { "allele": "A", "end": 5053, "referenceAllele": "G", "start": 5052 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.2:c.4754G>A" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Arg1585His", "hgvsWellDefined": "NP_001340880.1:p.Arg1585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS689999" }, { "@id": "http://reg.genome.network/allele/PA2827774567", "coordinates": [ { "allele": "A", "end": 5145, "referenceAllele": "G", "start": 5144 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.2:c.4754G>A" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Arg1585His", "hgvsWellDefined": "NP_001340881.1:p.Arg1585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690000" }, { "@id": "http://reg.genome.network/allele/PA2827777554", "coordinates": [ { "allele": "A", "end": 5142, "referenceAllele": "G", "start": 5141 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.2:c.4751G>A" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Arg1584His", "hgvsWellDefined": "NP_001340883.1:p.Arg1584His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690001" }, { "@id": "http://reg.genome.network/allele/PA2827780541", "coordinates": [ { "allele": "A", "end": 5050, "referenceAllele": "G", "start": 5049 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.2:c.4751G>A" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Arg1584His", "hgvsWellDefined": "NP_001340884.1:p.Arg1584His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690002" }, { "@id": "http://reg.genome.network/allele/PA2827783513", "coordinates": [ { "allele": "A", "end": 5002, "referenceAllele": "G", "start": 5001 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.2:c.4703G>A" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Arg1568His", "hgvsWellDefined": "NP_001340886.1:p.Arg1568His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690003" }, { "@id": "http://reg.genome.network/allele/PA2827786475", "coordinates": [ { "allele": "A", "end": 4959, "referenceAllele": "G", "start": 4958 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.2:c.4703G>A" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Arg1568His", "hgvsWellDefined": "NP_001340887.1:p.Arg1568His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690004" }, { "@id": "http://reg.genome.network/allele/PA2827789444", "coordinates": [ { "allele": "A", "end": 5091, "referenceAllele": "G", "start": 5090 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.2:c.4700G>A" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Arg1567His", "hgvsWellDefined": "NP_001340889.1:p.Arg1567His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690005" }, { "@id": "http://reg.genome.network/allele/PA916036877", "coordinates": [ { "allele": "A", "end": 5161, "referenceAllele": "G", "start": 5160 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.2:c.2345G>A" ], "proteinEffect": { "hgvs": "NP_001340890.1:p.Arg782His", "hgvsWellDefined": "NP_001340890.1:p.Arg782His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690006" }, { "@id": "http://reg.genome.network/allele/PA2829676213", "coordinates": [ { "allele": "A", "end": 5232, "referenceAllele": "G", "start": 5231 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.6:c.4754G>A" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Arg1585His", "hgvsWellDefined": "NP_008851.3:p.Arg1585His" }, "referenceSequence": "http://reg.genome.network/refseq/RS696855" }, { "coordinates": [ { "allele": "A", "end": 5204, "referenceAllele": "G", "start": 5203 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.2:n.5204G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704821" }, { "@id": "http://reg.genome.network/allele/PA658659573", "coordinates": [ { "allele": "A", "end": 5265, "referenceAllele": "G", "start": 5264 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.4:c.4787G>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Arg1596His", "hgvsWellDefined": "NP_001159435.1:p.Arg1596His" }, "referenceSequence": "http://reg.genome.network/refseq/RS713154", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.4787G>A" }, "RefSeq": { "hgvs": "NM_001165963.4:c.4787G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Arg1596His" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Arg1596His" } } } } ], "type": "nucleotide" }