{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA303515", "communityStandardTitle": [ "NM_001165963.4(SCN1A):c.2929G>A (p.Val977Met)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=187788[alleleid]", "alleleId": 187788, "preferredName": "NM_001165963.4(SCN1A):c.2929G>A (p.Val977Met)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189999", "RCV": [ "RCV000180955" ], "variationId": 189999 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166894303C>T?assembly=hg19", "id": "chr2:g.166894303C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166037793C>T?assembly=hg38", "id": "chr2:g.166037793C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/794726828", "rs": 794726828 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166037793, "referenceAllele": "C", "start": 166037792 } ], "hgvs": [ "NC_000002.12:g.166037793C>T", "CM000664.2:g.166037793C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166894303, "referenceAllele": "C", "start": 166894302 } ], "hgvs": [ "NC_000002.11:g.166894303C>T", "CM000664.1:g.166894303C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166602549, "referenceAllele": "C", "start": 166602548 } ], "hgvs": [ "NC_000002.10:g.166602549C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 40847, "referenceAllele": "G", "start": 40846 } ], "hgvs": [ "NG_011906.1:g.40847G>A", "LRG_8:g.40847G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002054" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3072, "referenceAllele": "G", "start": 3071 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000689288.1:c.*965G>A" ], "proteinEffect": { "hgvs": "ENSP00000509637.1:n.*965G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832093" }, { "coordinates": [ { "allele": "A", "end": 3320, "referenceAllele": "G", "start": 3319 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.9:c.2929G>A" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Val977Met", "hgvsWellDefined": "ENSP00000303540.4:p.Val977Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS745029" }, { "coordinates": [ { "allele": "A", "end": 3113, "referenceAllele": "G", "start": 3112 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635750.1:c.2896G>A" ], "proteinEffect": { "hgvs": "ENSP00000490799.1:p.Val966Met", "hgvsWellDefined": "ENSP00000490799.1:p.Val966Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS762613" }, { "coordinates": [ { "allele": "A", "end": 3198, "referenceAllele": "G", "start": 3197 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635776.1:c.2896G>A" ], "proteinEffect": { "hgvs": "ENSP00000490692.1:p.Val966Met", "hgvsWellDefined": "ENSP00000490692.1:p.Val966Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS762634" }, { "coordinates": [ { "allele": "A", "end": 3322, "referenceAllele": "G", "start": 3321 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000636194.1:c.*422G>A" ], "proteinEffect": { "hgvs": "ENSP00000490288.1:n.*422G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS762941" }, { "coordinates": [ { "allele": "A", "end": 3589, "referenceAllele": "G", "start": 3588 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000636759.1:c.*2719G>A" ], "proteinEffect": { "hgvs": "ENSP00000490895.1:n.*2719G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS763360" }, { "coordinates": [ { "allele": "A", "end": 3181, "referenceAllele": "G", "start": 3180 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637968.1:n.3181G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS764246" }, { "coordinates": [ { "allele": "A", "end": 3376, "referenceAllele": "G", "start": 3375 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637988.1:c.2896G>A" ], "proteinEffect": { "hgvs": "ENSP00000490780.1:p.Val966Met", "hgvsWellDefined": "ENSP00000490780.1:p.Val966Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS764260" }, { "coordinates": [ { "allele": "A", "end": 2945, "referenceAllele": "G", "start": 2944 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000640036.1:c.2896G>A" ], "proteinEffect": { "hgvs": "ENSP00000491573.1:p.Val966Met", "hgvsWellDefined": "ENSP00000491573.1:p.Val966Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS765301" }, { "coordinates": [ { "allele": "A", "end": 3169, "referenceAllele": "G", "start": 3168 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641575.1:c.2893G>A" ], "proteinEffect": { "hgvs": "ENSP00000492917.1:p.Val965Met", "hgvsWellDefined": "ENSP00000492917.1:p.Val965Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS766184" }, { "coordinates": [ { "allele": "A", "end": 3083, "referenceAllele": "G", "start": 3082 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641603.1:c.2929G>A" ], "proteinEffect": { "hgvs": "ENSP00000492945.1:p.Val977Met", "hgvsWellDefined": "ENSP00000492945.1:p.Val977Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS766204" }, { "coordinates": [ { "allele": "A", "end": 3198, "referenceAllele": "G", "start": 3197 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641996.1:c.*2483G>A" ], "proteinEffect": { "hgvs": "ENSP00000493054.1:n.*2483G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS766485" }, { "coordinates": [ { "allele": "A", "end": 3148, "referenceAllele": "G", "start": 3147 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000671940.1:c.*872G>A" ], "proteinEffect": { "hgvs": "ENSP00000500336.1:n.*872G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773217" }, { "coordinates": [ { "allele": "A", "end": 5402, "referenceAllele": "G", "start": 5401 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000673490.1:n.5402G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773702" }, { "coordinates": [ { "allele": "A", "end": 3407, "referenceAllele": "G", "start": 3406 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000674923.1:c.2929G>A" ], "proteinEffect": { "hgvs": "ENSP00000501589.1:p.Val977Met", "hgvsWellDefined": "ENSP00000501589.1:p.Val977Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS774809", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.2929G>A" }, "RefSeq": { "hgvs": "NM_001165963.4:c.2929G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Val977Met" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Val977Met" } } } }, { "coordinates": [ { "allele": "A", "end": 3347, "referenceAllele": "G", "start": 3346 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.8:c.2929G>A" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Val977Met", "hgvsWellDefined": "ENSP00000303540.4:p.Val977Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS255312" }, { "coordinates": [ { "allele": "A", "end": 2914, "referenceAllele": "G", "start": 2913 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000375405.7:c.2896G>A" ], "proteinEffect": { "hgvs": "ENSP00000364554.3:p.Val966Met", "hgvsWellDefined": "ENSP00000364554.3:p.Val966Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS270694" }, { "coordinates": [ { "allele": "A", "end": 2845, "referenceAllele": "G", "start": 2844 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000409050.1:c.2845G>A" ], "proteinEffect": { "hgvs": "ENSP00000386312.1:p.Val949Met", "hgvsWellDefined": "ENSP00000386312.1:p.Val949Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS281214" }, { "coordinates": [ { "allele": "A", "end": 3005, "referenceAllele": "G", "start": 3004 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000423058.6:c.2929G>A" ], "proteinEffect": { "hgvs": "ENSP00000407030.2:p.Val977Met", "hgvsWellDefined": "ENSP00000407030.2:p.Val977Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS287573" }, { "@id": "http://reg.genome.network/allele/PA303518", "coordinates": [ { "allele": "A", "end": 2947, "referenceAllele": "G", "start": 2946 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.1:c.2929G>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Val977Met", "hgvsWellDefined": "NP_001159435.1:p.Val977Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS014743" }, { "@id": "http://reg.genome.network/allele/PA2826012678", "coordinates": [ { "allele": "A", "end": 2863, "referenceAllele": "G", "start": 2862 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.1:c.2845G>A" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Val949Met", "hgvsWellDefined": "NP_001159436.1:p.Val949Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS014744" }, { "@id": "http://reg.genome.network/allele/PA2826259284", "coordinates": [ { "allele": "A", "end": 3156, "referenceAllele": "G", "start": 3155 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.1:c.2929G>A" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Val977Met", "hgvsWellDefined": "NP_001189364.1:p.Val977Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS017403" }, { "@id": "http://reg.genome.network/allele/PA303517", "coordinates": [ { "allele": "A", "end": 2914, "referenceAllele": "G", "start": 2913 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.4:c.2896G>A", "LRG_8t1:c.2896G>A" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Val966Met", "hgvsWellDefined": "NP_008851.3:p.Val966Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS031895" }, { "coordinates": [ { "allele": "A", "end": 3113, "referenceAllele": "G", "start": 3112 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511598.1:c.2929G>A" ], "proteinEffect": { "hgvs": "XP_011509900.1:p.Val977Met", "hgvsWellDefined": "XP_011509900.1:p.Val977Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS078859" }, { "coordinates": [ { "allele": "A", "end": 3328, "referenceAllele": "G", "start": 3327 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511599.1:c.2929G>A" ], "proteinEffect": { "hgvs": "XP_011509901.1:p.Val977Met", "hgvsWellDefined": "XP_011509901.1:p.Val977Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS078860" }, { "coordinates": [ { "allele": "A", "end": 3204, "referenceAllele": "G", "start": 3203 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511600.1:c.2929G>A" ], "proteinEffect": { "hgvs": "XP_011509902.1:p.Val977Met", "hgvsWellDefined": "XP_011509902.1:p.Val977Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS078861" }, { "coordinates": [ { "allele": "A", "end": 3323, "referenceAllele": "G", "start": 3322 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511601.1:c.2929G>A" ], "proteinEffect": { "hgvs": "XP_011509903.1:p.Val977Met", "hgvsWellDefined": "XP_011509903.1:p.Val977Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS078862" }, { "coordinates": [ { "allele": "A", "end": 3236, "referenceAllele": "G", "start": 3235 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511602.1:c.2929G>A" ], "proteinEffect": { "hgvs": "XP_011509904.1:p.Val977Met", "hgvsWellDefined": "XP_011509904.1:p.Val977Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS078863" }, { "coordinates": [ { "allele": "A", "end": 3110, "referenceAllele": "G", "start": 3109 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511603.1:c.2926G>A" ], "proteinEffect": { "hgvs": "XP_011509905.1:p.Val976Met", "hgvsWellDefined": "XP_011509905.1:p.Val976Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS078864" }, { "coordinates": [ { "allele": "A", "end": 3080, "referenceAllele": "G", "start": 3079 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511604.1:c.2896G>A" ], "proteinEffect": { "hgvs": "XP_011509906.1:p.Val966Met", "hgvsWellDefined": "XP_011509906.1:p.Val966Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS078865" }, { "coordinates": [ { "allele": "A", "end": 3077, "referenceAllele": "G", "start": 3076 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511605.1:c.2893G>A" ], "proteinEffect": { "hgvs": "XP_011509907.1:p.Val965Met", "hgvsWellDefined": "XP_011509907.1:p.Val965Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS078866" }, { "coordinates": [ { "allele": "A", "end": 3029, "referenceAllele": "G", "start": 3028 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511606.1:c.2845G>A" ], "proteinEffect": { "hgvs": "XP_011509908.1:p.Val949Met", "hgvsWellDefined": "XP_011509908.1:p.Val949Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS078867" }, { "coordinates": [ { "allele": "A", "end": 3113, "referenceAllele": "G", "start": 3112 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511607.1:c.2929G>A" ], "proteinEffect": { "hgvs": "XP_011509909.1:p.Val977Met", "hgvsWellDefined": "XP_011509909.1:p.Val977Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS078868" }, { "coordinates": [ { "allele": "A", "end": 3113, "referenceAllele": "G", "start": 3112 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_922981.1:n.3113G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS120043" }, { "@id": "http://reg.genome.network/allele/PA303518", "coordinates": [ { "allele": "A", "end": 3426, "referenceAllele": "G", "start": 3425 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.2:c.2929G>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Val977Met", "hgvsWellDefined": "NP_001159435.1:p.Val977Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS511667" }, { "@id": "http://reg.genome.network/allele/PA2826012678", "coordinates": [ { "allele": "A", "end": 3255, "referenceAllele": "G", "start": 3254 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.2:c.2845G>A" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Val949Met", "hgvsWellDefined": "NP_001159436.1:p.Val949Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS511668" }, { "@id": "http://reg.genome.network/allele/PA2826259284", "coordinates": [ { "allele": "A", "end": 3240, "referenceAllele": "G", "start": 3239 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.2:c.2929G>A" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Val977Met", "hgvsWellDefined": "NP_001189364.1:p.Val977Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS511850" }, { "@id": "http://reg.genome.network/allele/PA916036476", "coordinates": [ { "allele": "A", "end": 3247, "referenceAllele": "G", "start": 3246 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.1:c.2929G>A" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Val977Met", "hgvsWellDefined": "NP_001340877.1:p.Val977Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS522051" }, { "@id": "http://reg.genome.network/allele/PA2827758714", "coordinates": [ { "allele": "A", "end": 3115, "referenceAllele": "G", "start": 3114 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.1:c.2896G>A" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Val966Met", "hgvsWellDefined": "NP_001340878.1:p.Val966Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS522052" }, { "@id": "http://reg.genome.network/allele/PA2827765281", "coordinates": [ { "allele": "A", "end": 3207, "referenceAllele": "G", "start": 3206 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.1:c.2896G>A" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Val966Met", "hgvsWellDefined": "NP_001340879.1:p.Val966Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS522053" }, { "@id": "http://reg.genome.network/allele/PA2827770650", "coordinates": [ { "allele": "A", "end": 3214, "referenceAllele": "G", "start": 3213 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.1:c.2896G>A" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Val966Met", "hgvsWellDefined": "NP_001340880.1:p.Val966Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS522054" }, { "@id": "http://reg.genome.network/allele/PA2827773638", "coordinates": [ { "allele": "A", "end": 3306, "referenceAllele": "G", "start": 3305 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.1:c.2896G>A" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Val966Met", "hgvsWellDefined": "NP_001340881.1:p.Val966Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS522055" }, { "@id": "http://reg.genome.network/allele/PA2827776625", "coordinates": [ { "allele": "A", "end": 3303, "referenceAllele": "G", "start": 3302 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.1:c.2893G>A" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Val965Met", "hgvsWellDefined": "NP_001340883.1:p.Val965Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS522056" }, { "@id": "http://reg.genome.network/allele/PA2827779612", "coordinates": [ { "allele": "A", "end": 3211, "referenceAllele": "G", "start": 3210 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.1:c.2893G>A" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Val965Met", "hgvsWellDefined": "NP_001340884.1:p.Val965Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS522057" }, { "@id": "http://reg.genome.network/allele/PA2827782583", "coordinates": [ { "allele": "A", "end": 3163, "referenceAllele": "G", "start": 3162 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.1:c.2845G>A" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Val949Met", "hgvsWellDefined": "NP_001340886.1:p.Val949Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS522058" }, { "@id": "http://reg.genome.network/allele/PA2827785555", "coordinates": [ { "allele": "A", "end": 3156, "referenceAllele": "G", "start": 3155 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.1:c.2845G>A" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Val949Met", "hgvsWellDefined": "NP_001340887.1:p.Val949Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS522059" }, { "@id": "http://reg.genome.network/allele/PA2827788515", "coordinates": [ { "allele": "A", "end": 3252, "referenceAllele": "G", "start": 3251 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.1:c.2842G>A" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Val948Met", "hgvsWellDefined": "NP_001340889.1:p.Val948Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS522060" }, { "@id": "http://reg.genome.network/allele/PA2827790361", "coordinates": [ { "allele": "A", "end": 3322, "referenceAllele": "G", "start": 3321 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.1:c.487G>A" ], "proteinEffect": { "hgvs": "NP_001340890.1:p.Val163Met", "hgvsWellDefined": "NP_001340890.1:p.Val163Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS522061" }, { "@id": "http://reg.genome.network/allele/PA303517", "coordinates": [ { "allele": "A", "end": 3393, "referenceAllele": "G", "start": 3392 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.5:c.2896G>A" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Val966Met", "hgvsWellDefined": "NP_008851.3:p.Val966Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS525436" }, { "coordinates": [ { "allele": "A", "end": 3301, "referenceAllele": "G", "start": 3300 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.1:n.3301G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531272" }, { "coordinates": [ { "allele": "A", "end": 3315, "referenceAllele": "G", "start": 3314 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738883.1:n.3315G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589320" }, { "coordinates": [ { "allele": "A", "end": 3287, "referenceAllele": "G", "start": 3286 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738884.1:n.3287G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589321" }, { "@id": "http://reg.genome.network/allele/PA303518", "coordinates": [ { "allele": "A", "end": 3407, "referenceAllele": "G", "start": 3406 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.3:c.2929G>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Val977Met", "hgvsWellDefined": "NP_001159435.1:p.Val977Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS678433" }, { "@id": "http://reg.genome.network/allele/PA2826012678", "coordinates": [ { "allele": "A", "end": 3236, "referenceAllele": "G", "start": 3235 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.3:c.2845G>A" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Val949Met", "hgvsWellDefined": "NP_001159436.1:p.Val949Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS678434" }, { "@id": "http://reg.genome.network/allele/PA2826259284", "coordinates": [ { "allele": "A", "end": 3185, "referenceAllele": "G", "start": 3184 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.3:c.2929G>A" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Val977Met", "hgvsWellDefined": "NP_001189364.1:p.Val977Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS679700" }, { "@id": "http://reg.genome.network/allele/PA916036476", "coordinates": [ { "allele": "A", "end": 3228, "referenceAllele": "G", "start": 3227 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.2:c.2929G>A" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Val977Met", "hgvsWellDefined": "NP_001340877.1:p.Val977Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS689996" }, { "@id": "http://reg.genome.network/allele/PA2827758714", "coordinates": [ { "allele": "A", "end": 3060, "referenceAllele": "G", "start": 3059 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.2:c.2896G>A" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Val966Met", "hgvsWellDefined": "NP_001340878.1:p.Val966Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS689997" }, { "@id": "http://reg.genome.network/allele/PA2827765281", "coordinates": [ { "allele": "A", "end": 3152, "referenceAllele": "G", "start": 3151 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.2:c.2896G>A" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Val966Met", "hgvsWellDefined": "NP_001340879.1:p.Val966Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS689998" }, { "@id": "http://reg.genome.network/allele/PA2827770650", "coordinates": [ { "allele": "A", "end": 3195, "referenceAllele": "G", "start": 3194 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.2:c.2896G>A" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Val966Met", "hgvsWellDefined": "NP_001340880.1:p.Val966Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS689999" }, { "@id": "http://reg.genome.network/allele/PA2827773638", "coordinates": [ { "allele": "A", "end": 3287, "referenceAllele": "G", "start": 3286 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.2:c.2896G>A" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Val966Met", "hgvsWellDefined": "NP_001340881.1:p.Val966Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS690000" }, { "@id": "http://reg.genome.network/allele/PA2827776625", "coordinates": [ { "allele": "A", "end": 3284, "referenceAllele": "G", "start": 3283 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.2:c.2893G>A" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Val965Met", "hgvsWellDefined": "NP_001340883.1:p.Val965Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS690001" }, { "@id": "http://reg.genome.network/allele/PA2827779612", "coordinates": [ { "allele": "A", "end": 3192, "referenceAllele": "G", "start": 3191 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.2:c.2893G>A" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Val965Met", "hgvsWellDefined": "NP_001340884.1:p.Val965Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS690002" }, { "@id": "http://reg.genome.network/allele/PA2827782583", "coordinates": [ { "allele": "A", "end": 3144, "referenceAllele": "G", "start": 3143 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.2:c.2845G>A" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Val949Met", "hgvsWellDefined": "NP_001340886.1:p.Val949Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS690003" }, { "@id": "http://reg.genome.network/allele/PA2827785555", "coordinates": [ { "allele": "A", "end": 3101, "referenceAllele": "G", "start": 3100 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.2:c.2845G>A" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Val949Met", "hgvsWellDefined": "NP_001340887.1:p.Val949Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS690004" }, { "@id": "http://reg.genome.network/allele/PA2827788515", "coordinates": [ { "allele": "A", "end": 3233, "referenceAllele": "G", "start": 3232 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.2:c.2842G>A" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Val948Met", "hgvsWellDefined": "NP_001340889.1:p.Val948Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS690005" }, { "@id": "http://reg.genome.network/allele/PA2827790361", "coordinates": [ { "allele": "A", "end": 3303, "referenceAllele": "G", "start": 3302 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.2:c.487G>A" ], "proteinEffect": { "hgvs": "NP_001340890.1:p.Val163Met", "hgvsWellDefined": "NP_001340890.1:p.Val163Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS690006" }, { "@id": "http://reg.genome.network/allele/PA303517", "coordinates": [ { "allele": "A", "end": 3374, "referenceAllele": "G", "start": 3373 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.6:c.2896G>A" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Val966Met", "hgvsWellDefined": "NP_008851.3:p.Val966Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS696855" }, { "coordinates": [ { "allele": "A", "end": 3282, "referenceAllele": "G", "start": 3281 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.2:n.3282G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704821" }, { "@id": "http://reg.genome.network/allele/PA303518", "coordinates": [ { "allele": "A", "end": 3407, "referenceAllele": "G", "start": 3406 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.4:c.2929G>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Val977Met", "hgvsWellDefined": "NP_001159435.1:p.Val977Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS713154", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.2929G>A" }, "RefSeq": { "hgvs": "NM_001165963.4:c.2929G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Val977Met" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Val977Met" } } } } ], "type": "nucleotide" }