{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA349061639", "communityStandardTitle": [ "NM_001165963.4(SCN1A):c.2665G>A (p.Ala889Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=443031[alleleid]", "alleleId": 443031, "preferredName": "NM_001165963.4(SCN1A):c.2665G>A (p.Ala889Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/452271", "RCV": [ "RCV000559503", "RCV001696832", "RCV001253601" ], "variationId": 452271 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166894567C>T?assembly=hg19", "id": "chr2:g.166894567C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166038057C>T?assembly=hg38", "id": "chr2:g.166038057C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1266877537", "rs": 1266877537 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166038057, "referenceAllele": "C", "start": 166038056 } ], "hgvs": [ "NC_000002.12:g.166038057C>T", "CM000664.2:g.166038057C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166894567, "referenceAllele": "C", "start": 166894566 } ], "hgvs": [ "NC_000002.11:g.166894567C>T", "CM000664.1:g.166894567C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166602813, "referenceAllele": "C", "start": 166602812 } ], "hgvs": [ "NC_000002.10:g.166602813C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 40583, "referenceAllele": "G", "start": 40582 } ], "hgvs": [ "NG_011906.1:g.40583G>A", "LRG_8:g.40583G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002054" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2808, "referenceAllele": "G", "start": 2807 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000689288.1:c.*701G>A" ], "proteinEffect": { "hgvs": "ENSP00000509637.1:n.*701G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832093" }, { "coordinates": [ { "allele": "A", "end": 3056, "referenceAllele": "G", "start": 3055 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.9:c.2665G>A" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Ala889Thr", "hgvsWellDefined": "ENSP00000303540.4:p.Ala889Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS745029" }, { "coordinates": [ { "allele": "A", "end": 2849, "referenceAllele": "G", "start": 2848 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635750.1:c.2632G>A" ], "proteinEffect": { "hgvs": "ENSP00000490799.1:p.Ala878Thr", "hgvsWellDefined": "ENSP00000490799.1:p.Ala878Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS762613" }, { "coordinates": [ { "allele": "A", "end": 2934, "referenceAllele": "G", "start": 2933 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635776.1:c.2632G>A" ], "proteinEffect": { "hgvs": "ENSP00000490692.1:p.Ala878Thr", "hgvsWellDefined": "ENSP00000490692.1:p.Ala878Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS762634" }, { "coordinates": [ { "allele": "A", "end": 3058, "referenceAllele": "G", "start": 3057 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000636194.1:c.*158G>A" ], "proteinEffect": { "hgvs": "ENSP00000490288.1:n.*158G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS762941" }, { "coordinates": [ { "allele": "A", "end": 3325, "referenceAllele": "G", "start": 3324 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000636759.1:c.*2455G>A" ], "proteinEffect": { "hgvs": "ENSP00000490895.1:n.*2455G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS763360" }, { "coordinates": [ { "allele": "A", "end": 2917, "referenceAllele": "G", "start": 2916 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637968.1:n.2917G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS764246" }, { "coordinates": [ { "allele": "A", "end": 3112, "referenceAllele": "G", "start": 3111 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637988.1:c.2632G>A" ], "proteinEffect": { "hgvs": "ENSP00000490780.1:p.Ala878Thr", "hgvsWellDefined": "ENSP00000490780.1:p.Ala878Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS764260" }, { "coordinates": [ { "allele": "A", "end": 2681, "referenceAllele": "G", "start": 2680 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000640036.1:c.2632G>A" ], "proteinEffect": { "hgvs": "ENSP00000491573.1:p.Ala878Thr", "hgvsWellDefined": "ENSP00000491573.1:p.Ala878Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS765301" }, { "coordinates": [ { "allele": "A", "end": 2905, "referenceAllele": "G", "start": 2904 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641575.1:c.2629G>A" ], "proteinEffect": { "hgvs": "ENSP00000492917.1:p.Ala877Thr", "hgvsWellDefined": "ENSP00000492917.1:p.Ala877Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS766184" }, { "coordinates": [ { "allele": "A", "end": 2819, "referenceAllele": "G", "start": 2818 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641603.1:c.2665G>A" ], "proteinEffect": { "hgvs": "ENSP00000492945.1:p.Ala889Thr", "hgvsWellDefined": "ENSP00000492945.1:p.Ala889Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS766204" }, { "coordinates": [ { "allele": "A", "end": 2934, "referenceAllele": "G", "start": 2933 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641996.1:c.*2219G>A" ], "proteinEffect": { "hgvs": "ENSP00000493054.1:n.*2219G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS766485" }, { "coordinates": [ { "allele": "A", "end": 2884, "referenceAllele": "G", "start": 2883 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000671940.1:c.*608G>A" ], "proteinEffect": { "hgvs": "ENSP00000500336.1:n.*608G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773217" }, { "coordinates": [ { "allele": "A", "end": 5138, "referenceAllele": "G", "start": 5137 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000673490.1:n.5138G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773702" }, { "coordinates": [ { "allele": "A", "end": 3143, "referenceAllele": "G", "start": 3142 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000674923.1:c.2665G>A" ], "proteinEffect": { "hgvs": "ENSP00000501589.1:p.Ala889Thr", "hgvsWellDefined": "ENSP00000501589.1:p.Ala889Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS774809", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.2665G>A" }, "RefSeq": { "hgvs": "NM_001165963.4:c.2665G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Ala889Thr" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Ala889Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 3083, "referenceAllele": "G", "start": 3082 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.8:c.2665G>A" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Ala889Thr", "hgvsWellDefined": "ENSP00000303540.4:p.Ala889Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS255312" }, { "coordinates": [ { "allele": "A", "end": 2650, "referenceAllele": "G", "start": 2649 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000375405.7:c.2632G>A" ], "proteinEffect": { "hgvs": "ENSP00000364554.3:p.Ala878Thr", "hgvsWellDefined": "ENSP00000364554.3:p.Ala878Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS270694" }, { "coordinates": [ { "allele": "A", "end": 2581, "referenceAllele": "G", "start": 2580 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000409050.1:c.2581G>A" ], "proteinEffect": { "hgvs": "ENSP00000386312.1:p.Ala861Thr", "hgvsWellDefined": "ENSP00000386312.1:p.Ala861Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS281214" }, { "coordinates": [ { "allele": "A", "end": 2741, "referenceAllele": "G", "start": 2740 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000423058.6:c.2665G>A" ], "proteinEffect": { "hgvs": "ENSP00000407030.2:p.Ala889Thr", "hgvsWellDefined": "ENSP00000407030.2:p.Ala889Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS287573" }, { "@id": "http://reg.genome.network/allele/PA658659153", "coordinates": [ { "allele": "A", "end": 2683, "referenceAllele": "G", "start": 2682 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.1:c.2665G>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Ala889Thr", "hgvsWellDefined": "NP_001159435.1:p.Ala889Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS014743" }, { "@id": "http://reg.genome.network/allele/PA2826012521", "coordinates": [ { "allele": "A", "end": 2599, "referenceAllele": "G", "start": 2598 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.1:c.2581G>A" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Ala861Thr", "hgvsWellDefined": "NP_001159436.1:p.Ala861Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS014744" }, { "@id": "http://reg.genome.network/allele/PA2826259127", "coordinates": [ { "allele": "A", "end": 2892, "referenceAllele": "G", "start": 2891 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.1:c.2665G>A" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Ala889Thr", "hgvsWellDefined": "NP_001189364.1:p.Ala889Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS017403" }, { "@id": "http://reg.genome.network/allele/PA2829675282", "coordinates": [ { "allele": "A", "end": 2650, "referenceAllele": "G", "start": 2649 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.4:c.2632G>A", "LRG_8t1:c.2632G>A" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Ala878Thr", "hgvsWellDefined": "NP_008851.3:p.Ala878Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS031895" }, { "coordinates": [ { "allele": "A", "end": 2849, "referenceAllele": "G", "start": 2848 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511598.1:c.2665G>A" ], "proteinEffect": { "hgvs": "XP_011509900.1:p.Ala889Thr", "hgvsWellDefined": "XP_011509900.1:p.Ala889Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS078859" }, { "coordinates": [ { "allele": "A", "end": 3064, "referenceAllele": "G", "start": 3063 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511599.1:c.2665G>A" ], "proteinEffect": { "hgvs": "XP_011509901.1:p.Ala889Thr", "hgvsWellDefined": "XP_011509901.1:p.Ala889Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS078860" }, { "coordinates": [ { "allele": "A", "end": 2940, "referenceAllele": "G", "start": 2939 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511600.1:c.2665G>A" ], "proteinEffect": { "hgvs": "XP_011509902.1:p.Ala889Thr", "hgvsWellDefined": "XP_011509902.1:p.Ala889Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS078861" }, { "coordinates": [ { "allele": "A", "end": 3059, "referenceAllele": "G", "start": 3058 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511601.1:c.2665G>A" ], "proteinEffect": { "hgvs": "XP_011509903.1:p.Ala889Thr", "hgvsWellDefined": "XP_011509903.1:p.Ala889Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS078862" }, { "coordinates": [ { "allele": "A", "end": 2972, "referenceAllele": "G", "start": 2971 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511602.1:c.2665G>A" ], "proteinEffect": { "hgvs": "XP_011509904.1:p.Ala889Thr", "hgvsWellDefined": "XP_011509904.1:p.Ala889Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS078863" }, { "coordinates": [ { "allele": "A", "end": 2846, "referenceAllele": "G", "start": 2845 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511603.1:c.2662G>A" ], "proteinEffect": { "hgvs": "XP_011509905.1:p.Ala888Thr", "hgvsWellDefined": "XP_011509905.1:p.Ala888Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS078864" }, { "coordinates": [ { "allele": "A", "end": 2816, "referenceAllele": "G", "start": 2815 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511604.1:c.2632G>A" ], "proteinEffect": { "hgvs": "XP_011509906.1:p.Ala878Thr", "hgvsWellDefined": "XP_011509906.1:p.Ala878Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS078865" }, { "coordinates": [ { "allele": "A", "end": 2813, "referenceAllele": "G", "start": 2812 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511605.1:c.2629G>A" ], "proteinEffect": { "hgvs": "XP_011509907.1:p.Ala877Thr", "hgvsWellDefined": "XP_011509907.1:p.Ala877Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS078866" }, { "coordinates": [ { "allele": "A", "end": 2765, "referenceAllele": "G", "start": 2764 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511606.1:c.2581G>A" ], "proteinEffect": { "hgvs": "XP_011509908.1:p.Ala861Thr", "hgvsWellDefined": "XP_011509908.1:p.Ala861Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS078867" }, { "coordinates": [ { "allele": "A", "end": 2849, "referenceAllele": "G", "start": 2848 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511607.1:c.2665G>A" ], "proteinEffect": { "hgvs": "XP_011509909.1:p.Ala889Thr", "hgvsWellDefined": "XP_011509909.1:p.Ala889Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS078868" }, { "coordinates": [ { "allele": "A", "end": 2849, "referenceAllele": "G", "start": 2848 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_922981.1:n.2849G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS120043" }, { "@id": "http://reg.genome.network/allele/PA658659153", "coordinates": [ { "allele": "A", "end": 3162, "referenceAllele": "G", "start": 3161 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.2:c.2665G>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Ala889Thr", "hgvsWellDefined": "NP_001159435.1:p.Ala889Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS511667" }, { "@id": "http://reg.genome.network/allele/PA2826012521", "coordinates": [ { "allele": "A", "end": 2991, "referenceAllele": "G", "start": 2990 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.2:c.2581G>A" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Ala861Thr", "hgvsWellDefined": "NP_001159436.1:p.Ala861Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS511668" }, { "@id": "http://reg.genome.network/allele/PA2826259127", "coordinates": [ { "allele": "A", "end": 2976, "referenceAllele": "G", "start": 2975 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.2:c.2665G>A" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Ala889Thr", "hgvsWellDefined": "NP_001189364.1:p.Ala889Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS511850" }, { "@id": "http://reg.genome.network/allele/PA916036420", "coordinates": [ { "allele": "A", "end": 2983, "referenceAllele": "G", "start": 2982 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.1:c.2665G>A" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Ala889Thr", "hgvsWellDefined": "NP_001340877.1:p.Ala889Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522051" }, { "@id": "http://reg.genome.network/allele/PA2827758310", "coordinates": [ { "allele": "A", "end": 2851, "referenceAllele": "G", "start": 2850 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.1:c.2632G>A" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Ala878Thr", "hgvsWellDefined": "NP_001340878.1:p.Ala878Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522052" }, { "@id": "http://reg.genome.network/allele/PA2827764929", "coordinates": [ { "allele": "A", "end": 2943, "referenceAllele": "G", "start": 2942 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.1:c.2632G>A" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Ala878Thr", "hgvsWellDefined": "NP_001340879.1:p.Ala878Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522053" }, { "@id": "http://reg.genome.network/allele/PA2827770492", "coordinates": [ { "allele": "A", "end": 2950, "referenceAllele": "G", "start": 2949 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.1:c.2632G>A" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Ala878Thr", "hgvsWellDefined": "NP_001340880.1:p.Ala878Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522054" }, { "@id": "http://reg.genome.network/allele/PA2827773480", "coordinates": [ { "allele": "A", "end": 3042, "referenceAllele": "G", "start": 3041 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.1:c.2632G>A" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Ala878Thr", "hgvsWellDefined": "NP_001340881.1:p.Ala878Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522055" }, { "@id": "http://reg.genome.network/allele/PA2827776467", "coordinates": [ { "allele": "A", "end": 3039, "referenceAllele": "G", "start": 3038 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.1:c.2629G>A" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Ala877Thr", "hgvsWellDefined": "NP_001340883.1:p.Ala877Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522056" }, { "@id": "http://reg.genome.network/allele/PA2827779454", "coordinates": [ { "allele": "A", "end": 2947, "referenceAllele": "G", "start": 2946 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.1:c.2629G>A" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Ala877Thr", "hgvsWellDefined": "NP_001340884.1:p.Ala877Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522057" }, { "@id": "http://reg.genome.network/allele/PA2827782425", "coordinates": [ { "allele": "A", "end": 2899, "referenceAllele": "G", "start": 2898 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.1:c.2581G>A" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Ala861Thr", "hgvsWellDefined": "NP_001340886.1:p.Ala861Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522058" }, { "@id": "http://reg.genome.network/allele/PA2827785397", "coordinates": [ { "allele": "A", "end": 2892, "referenceAllele": "G", "start": 2891 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.1:c.2581G>A" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Ala861Thr", "hgvsWellDefined": "NP_001340887.1:p.Ala861Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522059" }, { "@id": "http://reg.genome.network/allele/PA2827788358", "coordinates": [ { "allele": "A", "end": 2988, "referenceAllele": "G", "start": 2987 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.1:c.2578G>A" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Ala860Thr", "hgvsWellDefined": "NP_001340889.1:p.Ala860Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522060" }, { "@id": "http://reg.genome.network/allele/PA2827790221", "coordinates": [ { "allele": "A", "end": 3058, "referenceAllele": "G", "start": 3057 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.1:c.223G>A" ], "proteinEffect": { "hgvs": "NP_001340890.1:p.Ala75Thr", "hgvsWellDefined": "NP_001340890.1:p.Ala75Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522061" }, { "@id": "http://reg.genome.network/allele/PA2829675282", "coordinates": [ { "allele": "A", "end": 3129, "referenceAllele": "G", "start": 3128 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.5:c.2632G>A" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Ala878Thr", "hgvsWellDefined": "NP_008851.3:p.Ala878Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS525436" }, { "coordinates": [ { "allele": "A", "end": 3037, "referenceAllele": "G", "start": 3036 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.1:n.3037G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531272" }, { "coordinates": [ { "allele": "A", "end": 3051, "referenceAllele": "G", "start": 3050 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738883.1:n.3051G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589320" }, { "coordinates": [ { "allele": "A", "end": 3023, "referenceAllele": "G", "start": 3022 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738884.1:n.3023G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589321" }, { "@id": "http://reg.genome.network/allele/PA658659153", "coordinates": [ { "allele": "A", "end": 3143, "referenceAllele": "G", "start": 3142 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.3:c.2665G>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Ala889Thr", "hgvsWellDefined": "NP_001159435.1:p.Ala889Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS678433" }, { "@id": "http://reg.genome.network/allele/PA2826012521", "coordinates": [ { "allele": "A", "end": 2972, "referenceAllele": "G", "start": 2971 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.3:c.2581G>A" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Ala861Thr", "hgvsWellDefined": "NP_001159436.1:p.Ala861Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS678434" }, { "@id": "http://reg.genome.network/allele/PA2826259127", "coordinates": [ { "allele": "A", "end": 2921, "referenceAllele": "G", "start": 2920 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.3:c.2665G>A" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Ala889Thr", "hgvsWellDefined": "NP_001189364.1:p.Ala889Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS679700" }, { "@id": "http://reg.genome.network/allele/PA916036420", "coordinates": [ { "allele": "A", "end": 2964, "referenceAllele": "G", "start": 2963 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.2:c.2665G>A" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Ala889Thr", "hgvsWellDefined": "NP_001340877.1:p.Ala889Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS689996" }, { "@id": "http://reg.genome.network/allele/PA2827758310", "coordinates": [ { "allele": "A", "end": 2796, "referenceAllele": "G", "start": 2795 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.2:c.2632G>A" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Ala878Thr", "hgvsWellDefined": "NP_001340878.1:p.Ala878Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS689997" }, { "@id": "http://reg.genome.network/allele/PA2827764929", "coordinates": [ { "allele": "A", "end": 2888, "referenceAllele": "G", "start": 2887 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.2:c.2632G>A" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Ala878Thr", "hgvsWellDefined": "NP_001340879.1:p.Ala878Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS689998" }, { "@id": "http://reg.genome.network/allele/PA2827770492", "coordinates": [ { "allele": "A", "end": 2931, "referenceAllele": "G", "start": 2930 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.2:c.2632G>A" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Ala878Thr", "hgvsWellDefined": "NP_001340880.1:p.Ala878Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS689999" }, { "@id": "http://reg.genome.network/allele/PA2827773480", "coordinates": [ { "allele": "A", "end": 3023, "referenceAllele": "G", "start": 3022 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.2:c.2632G>A" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Ala878Thr", "hgvsWellDefined": "NP_001340881.1:p.Ala878Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690000" }, { "@id": "http://reg.genome.network/allele/PA2827776467", "coordinates": [ { "allele": "A", "end": 3020, "referenceAllele": "G", "start": 3019 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.2:c.2629G>A" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Ala877Thr", "hgvsWellDefined": "NP_001340883.1:p.Ala877Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690001" }, { "@id": "http://reg.genome.network/allele/PA2827779454", "coordinates": [ { "allele": "A", "end": 2928, "referenceAllele": "G", "start": 2927 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.2:c.2629G>A" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Ala877Thr", "hgvsWellDefined": "NP_001340884.1:p.Ala877Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690002" }, { "@id": "http://reg.genome.network/allele/PA2827782425", "coordinates": [ { "allele": "A", "end": 2880, "referenceAllele": "G", "start": 2879 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.2:c.2581G>A" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Ala861Thr", "hgvsWellDefined": "NP_001340886.1:p.Ala861Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690003" }, { "@id": "http://reg.genome.network/allele/PA2827785397", "coordinates": [ { "allele": "A", "end": 2837, "referenceAllele": "G", "start": 2836 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.2:c.2581G>A" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Ala861Thr", "hgvsWellDefined": "NP_001340887.1:p.Ala861Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690004" }, { "@id": "http://reg.genome.network/allele/PA2827788358", "coordinates": [ { "allele": "A", "end": 2969, "referenceAllele": "G", "start": 2968 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.2:c.2578G>A" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Ala860Thr", "hgvsWellDefined": "NP_001340889.1:p.Ala860Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690005" }, { "@id": "http://reg.genome.network/allele/PA2827790221", "coordinates": [ { "allele": "A", "end": 3039, "referenceAllele": "G", "start": 3038 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.2:c.223G>A" ], "proteinEffect": { "hgvs": "NP_001340890.1:p.Ala75Thr", "hgvsWellDefined": "NP_001340890.1:p.Ala75Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690006" }, { "@id": "http://reg.genome.network/allele/PA2829675282", "coordinates": [ { "allele": "A", "end": 3110, "referenceAllele": "G", "start": 3109 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.6:c.2632G>A" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Ala878Thr", "hgvsWellDefined": "NP_008851.3:p.Ala878Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS696855" }, { "coordinates": [ { "allele": "A", "end": 3018, "referenceAllele": "G", "start": 3017 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.2:n.3018G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704821" }, { "@id": "http://reg.genome.network/allele/PA658659153", "coordinates": [ { "allele": "A", "end": 3143, "referenceAllele": "G", "start": 3142 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.4:c.2665G>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Ala889Thr", "hgvsWellDefined": "NP_001159435.1:p.Ala889Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS713154", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.2665G>A" }, "RefSeq": { "hgvs": "NM_001165963.4:c.2665G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Ala889Thr" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Ala889Thr" } } } } ], "type": "nucleotide" }