{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA234872", "communityStandardTitle": [ "NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)" ], "externalRecords": { "COSMIC": [ { "active": false, "id": "COSM4967548" }, { "active": false, "id": "COSM4967549" }, { "active": false, "id": "COSM4967550" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79480[alleleid]", "alleleId": 79480, "preferredName": "NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68588", "RCV": [ "RCV000059464", "RCV000118239", "RCV000475058", "RCV000578859", "RCV000655983", "RCV001252611", "RCV000789040", "RCV001705717", "RCV002316218", "RCV004537265" ], "variationId": 68588 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-166901590-C-T", "id": "2-166901590-C-T", "variant": "2:166901590 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166901590C>T?assembly=hg19", "id": "chr2:g.166901590C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166045080C>T?assembly=hg38", "id": "chr2:g.166045080C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121918817", "rs": 121918817 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-166901590-C-T?dataset=gnomad_r2_1", "id": "2-166901590-C-T", "variant": "2:166901590 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-166045080-C-T?dataset=gnomad_r3", "id": "2-166045080-C-T", "variant": "2:166045080 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-166045080-C-T?dataset=gnomad_r4", "id": "2-166045080-C-T", "variant": "2:166045080 C / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166045080, "referenceAllele": "C", "start": 166045079 } ], "hgvs": [ "NC_000002.12:g.166045080C>T", "CM000664.2:g.166045080C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166901590, "referenceAllele": "C", "start": 166901589 } ], "hgvs": [ "NC_000002.11:g.166901590C>T", "CM000664.1:g.166901590C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166609836, "referenceAllele": "C", "start": 166609835 } ], "hgvs": [ "NC_000002.10:g.166609836C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 33560, "referenceAllele": "G", "start": 33559 } ], "hgvs": [ "NG_011906.1:g.33560G>A", "LRG_8:g.33560G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002054" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1674, "referenceAllele": "G", "start": 1673 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000689288.1:c.1625G>A" ], "proteinEffect": { "hgvs": "ENSP00000509637.1:p.Arg542Gln", "hgvsWellDefined": "ENSP00000509637.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS832093" }, { "coordinates": [ { "allele": "A", "end": 2016, "referenceAllele": "G", "start": 2015 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.9:c.1625G>A" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Arg542Gln", "hgvsWellDefined": "ENSP00000303540.4:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS745029" }, { "coordinates": [ { "allele": "A", "end": 1842, "referenceAllele": "G", "start": 1841 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635750.1:c.1625G>A" ], "proteinEffect": { "hgvs": "ENSP00000490799.1:p.Arg542Gln", "hgvsWellDefined": "ENSP00000490799.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS762613" }, { "coordinates": [ { "allele": "A", "end": 1927, "referenceAllele": "G", "start": 1926 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635776.1:c.1625G>A" ], "proteinEffect": { "hgvs": "ENSP00000490692.1:p.Arg542Gln", "hgvsWellDefined": "ENSP00000490692.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS762634" }, { "coordinates": [ { "allele": "A", "end": 2035, "referenceAllele": "G", "start": 2034 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000636194.1:c.1625G>A" ], "proteinEffect": { "hgvs": "ENSP00000490288.1:p.Arg542Gln", "hgvsWellDefined": "ENSP00000490288.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS762941" }, { "coordinates": [ { "allele": "A", "end": 2285, "referenceAllele": "G", "start": 2284 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000636759.1:c.*1415G>A" ], "proteinEffect": { "hgvs": "ENSP00000490895.1:n.*1415G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS763360" }, { "coordinates": [ { "allele": "A", "end": 1877, "referenceAllele": "G", "start": 1876 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637968.1:n.1877G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS764246" }, { "coordinates": [ { "allele": "A", "end": 2105, "referenceAllele": "G", "start": 2104 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637988.1:c.1625G>A" ], "proteinEffect": { "hgvs": "ENSP00000490780.1:p.Arg542Gln", "hgvsWellDefined": "ENSP00000490780.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS764260" }, { "coordinates": [ { "allele": "A", "end": 1674, "referenceAllele": "G", "start": 1673 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000640036.1:c.1625G>A" ], "proteinEffect": { "hgvs": "ENSP00000491573.1:p.Arg542Gln", "hgvsWellDefined": "ENSP00000491573.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS765301" }, { "coordinates": [ { "allele": "A", "end": 1898, "referenceAllele": "G", "start": 1897 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641575.1:c.1622G>A" ], "proteinEffect": { "hgvs": "ENSP00000492917.1:p.Arg541Gln", "hgvsWellDefined": "ENSP00000492917.1:p.Arg541Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS766184" }, { "coordinates": [ { "allele": "A", "end": 1779, "referenceAllele": "G", "start": 1778 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641603.1:c.1625G>A" ], "proteinEffect": { "hgvs": "ENSP00000492945.1:p.Arg542Gln", "hgvsWellDefined": "ENSP00000492945.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS766204" }, { "coordinates": [ { "allele": "A", "end": 1894, "referenceAllele": "G", "start": 1893 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641996.1:c.*1179G>A" ], "proteinEffect": { "hgvs": "ENSP00000493054.1:n.*1179G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS766485" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "G", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000671940.1:c.1625G>A" ], "proteinEffect": { "hgvs": "ENSP00000500336.1:p.Arg542Gln", "hgvsWellDefined": "ENSP00000500336.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS773217" }, { "coordinates": [ { "allele": "A", "end": 4098, "referenceAllele": "G", "start": 4097 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000673490.1:n.4098G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773702" }, { "coordinates": [ { "allele": "A", "end": 2103, "referenceAllele": "G", "start": 2102 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000674923.1:c.1625G>A" ], "proteinEffect": { "hgvs": "ENSP00000501589.1:p.Arg542Gln", "hgvsWellDefined": "ENSP00000501589.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS774809", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.1625G>A" }, "RefSeq": { "hgvs": "NM_001165963.4:c.1625G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Arg542Gln" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Arg542Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 2043, "referenceAllele": "G", "start": 2042 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.8:c.1625G>A" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Arg542Gln", "hgvsWellDefined": "ENSP00000303540.4:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS255312" }, { "coordinates": [ { "allele": "A", "end": 1643, "referenceAllele": "G", "start": 1642 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000375405.7:c.1625G>A" ], "proteinEffect": { "hgvs": "ENSP00000364554.3:p.Arg542Gln", "hgvsWellDefined": "ENSP00000364554.3:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS270694" }, { "coordinates": [ { "allele": "A", "end": 1625, "referenceAllele": "G", "start": 1624 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000409050.1:c.1625G>A" ], "proteinEffect": { "hgvs": "ENSP00000386312.1:p.Arg542Gln", "hgvsWellDefined": "ENSP00000386312.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS281214" }, { "coordinates": [ { "allele": "A", "end": 1701, "referenceAllele": "G", "start": 1700 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000423058.6:c.1625G>A" ], "proteinEffect": { "hgvs": "ENSP00000407030.2:p.Arg542Gln", "hgvsWellDefined": "ENSP00000407030.2:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS287573" }, { "@id": "http://reg.genome.network/allele/PA234874", "coordinates": [ { "allele": "A", "end": 1643, "referenceAllele": "G", "start": 1642 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.1:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Arg542Gln", "hgvsWellDefined": "NP_001159435.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS014743" }, { "@id": "http://reg.genome.network/allele/PA2826012111", "coordinates": [ { "allele": "A", "end": 1643, "referenceAllele": "G", "start": 1642 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.1:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Arg542Gln", "hgvsWellDefined": "NP_001159436.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS014744" }, { "@id": "http://reg.genome.network/allele/PA2826258690", "coordinates": [ { "allele": "A", "end": 1852, "referenceAllele": "G", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.1:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Arg542Gln", "hgvsWellDefined": "NP_001189364.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS017403" }, { "@id": "http://reg.genome.network/allele/PA234875", "coordinates": [ { "allele": "A", "end": 1643, "referenceAllele": "G", "start": 1642 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.4:c.1625G>A", "LRG_8t1:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Arg542Gln", "hgvsWellDefined": "NP_008851.3:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS031895" }, { "coordinates": [ { "allele": "A", "end": 1809, "referenceAllele": "G", "start": 1808 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511598.1:c.1625G>A" ], "proteinEffect": { "hgvs": "XP_011509900.1:p.Arg542Gln", "hgvsWellDefined": "XP_011509900.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS078859" }, { "coordinates": [ { "allele": "A", "end": 2024, "referenceAllele": "G", "start": 2023 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511599.1:c.1625G>A" ], "proteinEffect": { "hgvs": "XP_011509901.1:p.Arg542Gln", "hgvsWellDefined": "XP_011509901.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS078860" }, { "coordinates": [ { "allele": "A", "end": 1900, "referenceAllele": "G", "start": 1899 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511600.1:c.1625G>A" ], "proteinEffect": { "hgvs": "XP_011509902.1:p.Arg542Gln", "hgvsWellDefined": "XP_011509902.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS078861" }, { "coordinates": [ { "allele": "A", "end": 2019, "referenceAllele": "G", "start": 2018 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511601.1:c.1625G>A" ], "proteinEffect": { "hgvs": "XP_011509903.1:p.Arg542Gln", "hgvsWellDefined": "XP_011509903.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS078862" }, { "coordinates": [ { "allele": "A", "end": 1932, "referenceAllele": "G", "start": 1931 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511602.1:c.1625G>A" ], "proteinEffect": { "hgvs": "XP_011509904.1:p.Arg542Gln", "hgvsWellDefined": "XP_011509904.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS078863" }, { "coordinates": [ { "allele": "A", "end": 1806, "referenceAllele": "G", "start": 1805 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511603.1:c.1622G>A" ], "proteinEffect": { "hgvs": "XP_011509905.1:p.Arg541Gln", "hgvsWellDefined": "XP_011509905.1:p.Arg541Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS078864" }, { "coordinates": [ { "allele": "A", "end": 1809, "referenceAllele": "G", "start": 1808 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511604.1:c.1625G>A" ], "proteinEffect": { "hgvs": "XP_011509906.1:p.Arg542Gln", "hgvsWellDefined": "XP_011509906.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS078865" }, { "coordinates": [ { "allele": "A", "end": 1806, "referenceAllele": "G", "start": 1805 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511605.1:c.1622G>A" ], "proteinEffect": { "hgvs": "XP_011509907.1:p.Arg541Gln", "hgvsWellDefined": "XP_011509907.1:p.Arg541Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS078866" }, { "coordinates": [ { "allele": "A", "end": 1809, "referenceAllele": "G", "start": 1808 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511606.1:c.1625G>A" ], "proteinEffect": { "hgvs": "XP_011509908.1:p.Arg542Gln", "hgvsWellDefined": "XP_011509908.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS078867" }, { "coordinates": [ { "allele": "A", "end": 1809, "referenceAllele": "G", "start": 1808 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511607.1:c.1625G>A" ], "proteinEffect": { "hgvs": "XP_011509909.1:p.Arg542Gln", "hgvsWellDefined": "XP_011509909.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS078868" }, { "coordinates": [ { "allele": "A", "end": 1809, "referenceAllele": "G", "start": 1808 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_922981.1:n.1809G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS120043" }, { "@id": "http://reg.genome.network/allele/PA234874", "coordinates": [ { "allele": "A", "end": 2122, "referenceAllele": "G", "start": 2121 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.2:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Arg542Gln", "hgvsWellDefined": "NP_001159435.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511667" }, { "@id": "http://reg.genome.network/allele/PA2826012111", "coordinates": [ { "allele": "A", "end": 2035, "referenceAllele": "G", "start": 2034 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.2:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Arg542Gln", "hgvsWellDefined": "NP_001159436.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511668" }, { "@id": "http://reg.genome.network/allele/PA2826258690", "coordinates": [ { "allele": "A", "end": 1936, "referenceAllele": "G", "start": 1935 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.2:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Arg542Gln", "hgvsWellDefined": "NP_001189364.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511850" }, { "@id": "http://reg.genome.network/allele/PA2827750839", "coordinates": [ { "allele": "A", "end": 1943, "referenceAllele": "G", "start": 1942 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.1:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Arg542Gln", "hgvsWellDefined": "NP_001340877.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522051" }, { "@id": "http://reg.genome.network/allele/PA2827757458", "coordinates": [ { "allele": "A", "end": 1844, "referenceAllele": "G", "start": 1843 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.1:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Arg542Gln", "hgvsWellDefined": "NP_001340878.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522052" }, { "@id": "http://reg.genome.network/allele/PA2827763999", "coordinates": [ { "allele": "A", "end": 1936, "referenceAllele": "G", "start": 1935 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.1:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Arg542Gln", "hgvsWellDefined": "NP_001340879.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522053" }, { "@id": "http://reg.genome.network/allele/PA2827770067", "coordinates": [ { "allele": "A", "end": 1943, "referenceAllele": "G", "start": 1942 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.1:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Arg542Gln", "hgvsWellDefined": "NP_001340880.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522054" }, { "@id": "http://reg.genome.network/allele/PA2827773054", "coordinates": [ { "allele": "A", "end": 2035, "referenceAllele": "G", "start": 2034 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.1:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Arg542Gln", "hgvsWellDefined": "NP_001340881.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522055" }, { "@id": "http://reg.genome.network/allele/PA2827776040", "coordinates": [ { "allele": "A", "end": 2032, "referenceAllele": "G", "start": 2031 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.1:c.1622G>A" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Arg541Gln", "hgvsWellDefined": "NP_001340883.1:p.Arg541Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522056" }, { "@id": "http://reg.genome.network/allele/PA2827779028", "coordinates": [ { "allele": "A", "end": 1940, "referenceAllele": "G", "start": 1939 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.1:c.1622G>A" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Arg541Gln", "hgvsWellDefined": "NP_001340884.1:p.Arg541Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522057" }, { "@id": "http://reg.genome.network/allele/PA2827782014", "coordinates": [ { "allele": "A", "end": 1943, "referenceAllele": "G", "start": 1942 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.1:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Arg542Gln", "hgvsWellDefined": "NP_001340886.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522058" }, { "@id": "http://reg.genome.network/allele/PA2827784986", "coordinates": [ { "allele": "A", "end": 1936, "referenceAllele": "G", "start": 1935 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.1:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Arg542Gln", "hgvsWellDefined": "NP_001340887.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522059" }, { "@id": "http://reg.genome.network/allele/PA2827787947", "coordinates": [ { "allele": "A", "end": 2032, "referenceAllele": "G", "start": 2031 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.1:c.1622G>A" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Arg541Gln", "hgvsWellDefined": "NP_001340889.1:p.Arg541Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522060" }, { "coordinates": [ { "allele": "A", "end": 2035, "referenceAllele": "G", "start": 2034 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.1:c.-801G>A" ], "proteinEffect": { "hgvs": "NP_001340890.1:n.-801G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522061" }, { "@id": "http://reg.genome.network/allele/PA234875", "coordinates": [ { "allele": "A", "end": 2122, "referenceAllele": "G", "start": 2121 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.5:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Arg542Gln", "hgvsWellDefined": "NP_008851.3:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS525436" }, { "coordinates": [ { "allele": "A", "end": 2030, "referenceAllele": "G", "start": 2029 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.1:n.2030G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531272" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "G", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738883.1:n.2011G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589320" }, { "coordinates": [ { "allele": "A", "end": 2016, "referenceAllele": "G", "start": 2015 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738884.1:n.2016G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589321" }, { "@id": "http://reg.genome.network/allele/PA234874", "coordinates": [ { "allele": "A", "end": 2103, "referenceAllele": "G", "start": 2102 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.3:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Arg542Gln", "hgvsWellDefined": "NP_001159435.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS678433" }, { "@id": "http://reg.genome.network/allele/PA2826012111", "coordinates": [ { "allele": "A", "end": 2016, "referenceAllele": "G", "start": 2015 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.3:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Arg542Gln", "hgvsWellDefined": "NP_001159436.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS678434" }, { "@id": "http://reg.genome.network/allele/PA2826258690", "coordinates": [ { "allele": "A", "end": 1881, "referenceAllele": "G", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.3:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Arg542Gln", "hgvsWellDefined": "NP_001189364.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS679700" }, { "@id": "http://reg.genome.network/allele/PA2827750839", "coordinates": [ { "allele": "A", "end": 1924, "referenceAllele": "G", "start": 1923 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.2:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Arg542Gln", "hgvsWellDefined": "NP_001340877.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS689996" }, { "@id": "http://reg.genome.network/allele/PA2827757458", "coordinates": [ { "allele": "A", "end": 1789, "referenceAllele": "G", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.2:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Arg542Gln", "hgvsWellDefined": "NP_001340878.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS689997" }, { "@id": "http://reg.genome.network/allele/PA2827763999", "coordinates": [ { "allele": "A", "end": 1881, "referenceAllele": "G", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.2:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Arg542Gln", "hgvsWellDefined": "NP_001340879.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS689998" }, { "@id": "http://reg.genome.network/allele/PA2827770067", "coordinates": [ { "allele": "A", "end": 1924, "referenceAllele": "G", "start": 1923 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.2:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Arg542Gln", "hgvsWellDefined": "NP_001340880.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS689999" }, { "@id": "http://reg.genome.network/allele/PA2827773054", "coordinates": [ { "allele": "A", "end": 2016, "referenceAllele": "G", "start": 2015 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.2:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Arg542Gln", "hgvsWellDefined": "NP_001340881.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690000" }, { "@id": "http://reg.genome.network/allele/PA2827776040", "coordinates": [ { "allele": "A", "end": 2013, "referenceAllele": "G", "start": 2012 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.2:c.1622G>A" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Arg541Gln", "hgvsWellDefined": "NP_001340883.1:p.Arg541Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690001" }, { "@id": "http://reg.genome.network/allele/PA2827779028", "coordinates": [ { "allele": "A", "end": 1921, "referenceAllele": "G", "start": 1920 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.2:c.1622G>A" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Arg541Gln", "hgvsWellDefined": "NP_001340884.1:p.Arg541Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690002" }, { "@id": "http://reg.genome.network/allele/PA2827782014", "coordinates": [ { "allele": "A", "end": 1924, "referenceAllele": "G", "start": 1923 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.2:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Arg542Gln", "hgvsWellDefined": "NP_001340886.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690003" }, { "@id": "http://reg.genome.network/allele/PA2827784986", "coordinates": [ { "allele": "A", "end": 1881, "referenceAllele": "G", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.2:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Arg542Gln", "hgvsWellDefined": "NP_001340887.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690004" }, { "@id": "http://reg.genome.network/allele/PA2827787947", "coordinates": [ { "allele": "A", "end": 2013, "referenceAllele": "G", "start": 2012 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.2:c.1622G>A" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Arg541Gln", "hgvsWellDefined": "NP_001340889.1:p.Arg541Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690005" }, { "coordinates": [ { "allele": "A", "end": 2016, "referenceAllele": "G", "start": 2015 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.2:c.-801G>A" ], "proteinEffect": { "hgvs": "NP_001340890.1:n.-801G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS690006" }, { "@id": "http://reg.genome.network/allele/PA234875", "coordinates": [ { "allele": "A", "end": 2103, "referenceAllele": "G", "start": 2102 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.6:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Arg542Gln", "hgvsWellDefined": "NP_008851.3:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS696855" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "G", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.2:n.2011G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704821" }, { "@id": "http://reg.genome.network/allele/PA234874", "coordinates": [ { "allele": "A", "end": 2103, "referenceAllele": "G", "start": 2102 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.4:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Arg542Gln", "hgvsWellDefined": "NP_001159435.1:p.Arg542Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS713154", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.1625G>A" }, "RefSeq": { "hgvs": "NM_001165963.4:c.1625G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Arg542Gln" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Arg542Gln" } } } } ], "type": "nucleotide" }