{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10588324", "communityStandardTitle": [ "NM_001165963.4(SCN1A):c.661C>G (p.Leu221Val)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=259710[alleleid]", "alleleId": 259710, "preferredName": "NM_001165963.4(SCN1A):c.661C>G (p.Leu221Val)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265297", "RCV": [ "RCV000255269", "RCV000763462", "RCV002521851" ], "variationId": 265297 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166909395G>C?assembly=hg19", "id": "chr2:g.166909395G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166052885G>C?assembly=hg38", "id": "chr2:g.166052885G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/886039456", "rs": 886039456 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-166052885-G-C?dataset=gnomad_r3", "id": "2-166052885-G-C", "variant": "2:166052885 G / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-166052885-G-C?dataset=gnomad_r4", "id": "2-166052885-G-C", "variant": "2:166052885 G / C" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 166052885, "referenceAllele": "G", "start": 166052884 } ], "hgvs": [ "NC_000002.12:g.166052885G>C", "CM000664.2:g.166052885G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 166909395, "referenceAllele": "G", "start": 166909394 } ], "hgvs": [ "NC_000002.11:g.166909395G>C", "CM000664.1:g.166909395G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 166617641, "referenceAllele": "G", "start": 166617640 } ], "hgvs": [ "NC_000002.10:g.166617641G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "G", "end": 25755, "referenceAllele": "C", "start": 25754 } ], "hgvs": [ "NG_011906.1:g.25755C>G", "LRG_8:g.25755C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS002054" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 710, "referenceAllele": "C", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000689288.1:c.661C>G" ], "proteinEffect": { "hgvs": "ENSP00000509637.1:p.Leu221Val", "hgvsWellDefined": "ENSP00000509637.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS832093" }, { "coordinates": [ { "allele": "G", "end": 1052, "referenceAllele": "C", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.9:c.661C>G" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Leu221Val", "hgvsWellDefined": "ENSP00000303540.4:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS745029" }, { "coordinates": [ { "allele": "G", "end": 878, "referenceAllele": "C", "start": 877 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635750.1:c.661C>G" ], "proteinEffect": { "hgvs": "ENSP00000490799.1:p.Leu221Val", "hgvsWellDefined": "ENSP00000490799.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS762613" }, { "coordinates": [ { "allele": "G", "end": 963, "referenceAllele": "C", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635776.1:c.661C>G" ], "proteinEffect": { "hgvs": "ENSP00000490692.1:p.Leu221Val", "hgvsWellDefined": "ENSP00000490692.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS762634" }, { "coordinates": [ { "allele": "G", "end": 1071, "referenceAllele": "C", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000636194.1:c.661C>G" ], "proteinEffect": { "hgvs": "ENSP00000490288.1:p.Leu221Val", "hgvsWellDefined": "ENSP00000490288.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS762941" }, { "coordinates": [ { "allele": "G", "end": 1321, "referenceAllele": "C", "start": 1320 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000636759.1:c.*451C>G" ], "proteinEffect": { "hgvs": "ENSP00000490895.1:n.*451C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS763360" }, { "coordinates": [ { "allele": "G", "end": 913, "referenceAllele": "C", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637968.1:n.913C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS764246" }, { "coordinates": [ { "allele": "G", "end": 1141, "referenceAllele": "C", "start": 1140 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637988.1:c.661C>G" ], "proteinEffect": { "hgvs": "ENSP00000490780.1:p.Leu221Val", "hgvsWellDefined": "ENSP00000490780.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS764260" }, { "coordinates": [ { "allele": "G", "end": 743, "endIntronDirection": "+", "endIntronOffset": 154, "referenceAllele": "C", "start": 743, "startIntronDirection": "+", "startIntronOffset": 153 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000640036.1:c.694+154C>G" ], "proteinEffect": { "hgvs": "ENSP00000491573.1:n.694+154C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS765301" }, { "coordinates": [ { "allele": "G", "end": 937, "referenceAllele": "C", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641575.1:c.661C>G" ], "proteinEffect": { "hgvs": "ENSP00000492917.1:p.Leu221Val", "hgvsWellDefined": "ENSP00000492917.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS766184" }, { "coordinates": [ { "allele": "G", "end": 815, "referenceAllele": "C", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641603.1:c.661C>G" ], "proteinEffect": { "hgvs": "ENSP00000492945.1:p.Leu221Val", "hgvsWellDefined": "ENSP00000492945.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS766204" }, { "coordinates": [ { "allele": "G", "end": 930, "referenceAllele": "C", "start": 929 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641996.1:c.*215C>G" ], "proteinEffect": { "hgvs": "ENSP00000493054.1:n.*215C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS766485" }, { "coordinates": [ { "allele": "G", "end": 1047, "referenceAllele": "C", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000671940.1:c.661C>G" ], "proteinEffect": { "hgvs": "ENSP00000500336.1:p.Leu221Val", "hgvsWellDefined": "ENSP00000500336.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS773217" }, { "coordinates": [ { "allele": "G", "end": 3134, "referenceAllele": "C", "start": 3133 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000673490.1:n.3134C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS773702" }, { "coordinates": [ { "allele": "G", "end": 1139, "referenceAllele": "C", "start": 1138 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000674923.1:c.661C>G" ], "proteinEffect": { "hgvs": "ENSP00000501589.1:p.Leu221Val", "hgvsWellDefined": "ENSP00000501589.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS774809", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.661C>G" }, "RefSeq": { "hgvs": "NM_001165963.4:c.661C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Leu221Val" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Leu221Val" } } } }, { "coordinates": [ { "allele": "G", "end": 1079, "referenceAllele": "C", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.8:c.661C>G" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Leu221Val", "hgvsWellDefined": "ENSP00000303540.4:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS255312" }, { "coordinates": [ { "allele": "G", "end": 679, "referenceAllele": "C", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000375405.7:c.661C>G" ], "proteinEffect": { "hgvs": "ENSP00000364554.3:p.Leu221Val", "hgvsWellDefined": "ENSP00000364554.3:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS270694" }, { "coordinates": [ { "allele": "G", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000409050.1:c.661C>G" ], "proteinEffect": { "hgvs": "ENSP00000386312.1:p.Leu221Val", "hgvsWellDefined": "ENSP00000386312.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS281214" }, { "coordinates": [ { "allele": "G", "end": 737, "referenceAllele": "C", "start": 736 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000423058.6:c.661C>G" ], "proteinEffect": { "hgvs": "ENSP00000407030.2:p.Leu221Val", "hgvsWellDefined": "ENSP00000407030.2:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS287573" }, { "@id": "http://reg.genome.network/allele/PA2826008967", "coordinates": [ { "allele": "G", "end": 679, "referenceAllele": "C", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.1:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Leu221Val", "hgvsWellDefined": "NP_001159435.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS014743" }, { "@id": "http://reg.genome.network/allele/PA2826011622", "coordinates": [ { "allele": "G", "end": 679, "referenceAllele": "C", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.1:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Leu221Val", "hgvsWellDefined": "NP_001159436.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS014744" }, { "@id": "http://reg.genome.network/allele/PA2826258200", "coordinates": [ { "allele": "G", "end": 888, "referenceAllele": "C", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.1:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Leu221Val", "hgvsWellDefined": "NP_001189364.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS017403" }, { "@id": "http://reg.genome.network/allele/PA645402658", "coordinates": [ { "allele": "G", "end": 679, "referenceAllele": "C", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.4:c.661C>G", "LRG_8t1:c.661C>G" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Leu221Val", "hgvsWellDefined": "NP_008851.3:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS031895" }, { "coordinates": [ { "allele": "G", "end": 845, "referenceAllele": "C", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511598.1:c.661C>G" ], "proteinEffect": { "hgvs": "XP_011509900.1:p.Leu221Val", "hgvsWellDefined": "XP_011509900.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS078859" }, { "coordinates": [ { "allele": "G", "end": 1060, "referenceAllele": "C", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511599.1:c.661C>G" ], "proteinEffect": { "hgvs": "XP_011509901.1:p.Leu221Val", "hgvsWellDefined": "XP_011509901.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS078860" }, { "coordinates": [ { "allele": "G", "end": 936, "referenceAllele": "C", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511600.1:c.661C>G" ], "proteinEffect": { "hgvs": "XP_011509902.1:p.Leu221Val", "hgvsWellDefined": "XP_011509902.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS078861" }, { "coordinates": [ { "allele": "G", "end": 1055, "referenceAllele": "C", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511601.1:c.661C>G" ], "proteinEffect": { "hgvs": "XP_011509903.1:p.Leu221Val", "hgvsWellDefined": "XP_011509903.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS078862" }, { "coordinates": [ { "allele": "G", "end": 968, "referenceAllele": "C", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511602.1:c.661C>G" ], "proteinEffect": { "hgvs": "XP_011509904.1:p.Leu221Val", "hgvsWellDefined": "XP_011509904.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS078863" }, { "coordinates": [ { "allele": "G", "end": 845, "referenceAllele": "C", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511603.1:c.661C>G" ], "proteinEffect": { "hgvs": "XP_011509905.1:p.Leu221Val", "hgvsWellDefined": "XP_011509905.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS078864" }, { "coordinates": [ { "allele": "G", "end": 845, "referenceAllele": "C", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511604.1:c.661C>G" ], "proteinEffect": { "hgvs": "XP_011509906.1:p.Leu221Val", "hgvsWellDefined": "XP_011509906.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS078865" }, { "coordinates": [ { "allele": "G", "end": 845, "referenceAllele": "C", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511605.1:c.661C>G" ], "proteinEffect": { "hgvs": "XP_011509907.1:p.Leu221Val", "hgvsWellDefined": "XP_011509907.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS078866" }, { "coordinates": [ { "allele": "G", "end": 845, "referenceAllele": "C", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511606.1:c.661C>G" ], "proteinEffect": { "hgvs": "XP_011509908.1:p.Leu221Val", "hgvsWellDefined": "XP_011509908.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS078867" }, { "coordinates": [ { "allele": "G", "end": 845, "referenceAllele": "C", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511607.1:c.661C>G" ], "proteinEffect": { "hgvs": "XP_011509909.1:p.Leu221Val", "hgvsWellDefined": "XP_011509909.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS078868" }, { "coordinates": [ { "allele": "G", "end": 845, "referenceAllele": "C", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_922981.1:n.845C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS120043" }, { "@id": "http://reg.genome.network/allele/PA2826008967", "coordinates": [ { "allele": "G", "end": 1158, "referenceAllele": "C", "start": 1157 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.2:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Leu221Val", "hgvsWellDefined": "NP_001159435.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511667" }, { "@id": "http://reg.genome.network/allele/PA2826011622", "coordinates": [ { "allele": "G", "end": 1071, "referenceAllele": "C", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.2:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Leu221Val", "hgvsWellDefined": "NP_001159436.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511668" }, { "@id": "http://reg.genome.network/allele/PA2826258200", "coordinates": [ { "allele": "G", "end": 972, "referenceAllele": "C", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.2:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Leu221Val", "hgvsWellDefined": "NP_001189364.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511850" }, { "@id": "http://reg.genome.network/allele/PA2827749689", "coordinates": [ { "allele": "G", "end": 979, "referenceAllele": "C", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.1:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Leu221Val", "hgvsWellDefined": "NP_001340877.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522051" }, { "@id": "http://reg.genome.network/allele/PA2827756334", "coordinates": [ { "allele": "G", "end": 880, "referenceAllele": "C", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.1:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Leu221Val", "hgvsWellDefined": "NP_001340878.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522052" }, { "@id": "http://reg.genome.network/allele/PA2827762963", "coordinates": [ { "allele": "G", "end": 972, "referenceAllele": "C", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.1:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Leu221Val", "hgvsWellDefined": "NP_001340879.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522053" }, { "@id": "http://reg.genome.network/allele/PA2827769498", "coordinates": [ { "allele": "G", "end": 979, "referenceAllele": "C", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.1:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Leu221Val", "hgvsWellDefined": "NP_001340880.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522054" }, { "@id": "http://reg.genome.network/allele/PA2827772566", "coordinates": [ { "allele": "G", "end": 1071, "referenceAllele": "C", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.1:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Leu221Val", "hgvsWellDefined": "NP_001340881.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522055" }, { "@id": "http://reg.genome.network/allele/PA2827775554", "coordinates": [ { "allele": "G", "end": 1071, "referenceAllele": "C", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.1:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Leu221Val", "hgvsWellDefined": "NP_001340883.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522056" }, { "@id": "http://reg.genome.network/allele/PA2827778539", "coordinates": [ { "allele": "G", "end": 979, "referenceAllele": "C", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.1:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Leu221Val", "hgvsWellDefined": "NP_001340884.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522057" }, { "@id": "http://reg.genome.network/allele/PA2827781525", "coordinates": [ { "allele": "G", "end": 979, "referenceAllele": "C", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.1:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Leu221Val", "hgvsWellDefined": "NP_001340886.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522058" }, { "@id": "http://reg.genome.network/allele/PA2827784498", "coordinates": [ { "allele": "G", "end": 972, "referenceAllele": "C", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.1:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Leu221Val", "hgvsWellDefined": "NP_001340887.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522059" }, { "@id": "http://reg.genome.network/allele/PA2827787458", "coordinates": [ { "allele": "G", "end": 1071, "referenceAllele": "C", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.1:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Leu221Val", "hgvsWellDefined": "NP_001340889.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522060" }, { "coordinates": [ { "allele": "G", "end": 1071, "referenceAllele": "C", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.1:c.-1765C>G" ], "proteinEffect": { "hgvs": "NP_001340890.1:n.-1765C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS522061" }, { "@id": "http://reg.genome.network/allele/PA645402658", "coordinates": [ { "allele": "G", "end": 1158, "referenceAllele": "C", "start": 1157 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.5:c.661C>G" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Leu221Val", "hgvsWellDefined": "NP_008851.3:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS525436" }, { "coordinates": [ { "allele": "G", "end": 1066, "referenceAllele": "C", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.1:n.1066C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531272" }, { "coordinates": [ { "allele": "G", "end": 1047, "referenceAllele": "C", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738883.1:n.1047C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS589320" }, { "coordinates": [ { "allele": "G", "end": 1052, "referenceAllele": "C", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738884.1:n.1052C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS589321" }, { "@id": "http://reg.genome.network/allele/PA2826008967", "coordinates": [ { "allele": "G", "end": 1139, "referenceAllele": "C", "start": 1138 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.3:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Leu221Val", "hgvsWellDefined": "NP_001159435.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS678433" }, { "@id": "http://reg.genome.network/allele/PA2826011622", "coordinates": [ { "allele": "G", "end": 1052, "referenceAllele": "C", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.3:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Leu221Val", "hgvsWellDefined": "NP_001159436.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS678434" }, { "@id": "http://reg.genome.network/allele/PA2826258200", "coordinates": [ { "allele": "G", "end": 917, "referenceAllele": "C", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.3:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Leu221Val", "hgvsWellDefined": "NP_001189364.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS679700" }, { "@id": "http://reg.genome.network/allele/PA2827749689", "coordinates": [ { "allele": "G", "end": 960, "referenceAllele": "C", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.2:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Leu221Val", "hgvsWellDefined": "NP_001340877.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS689996" }, { "@id": "http://reg.genome.network/allele/PA2827756334", "coordinates": [ { "allele": "G", "end": 825, "referenceAllele": "C", "start": 824 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.2:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Leu221Val", "hgvsWellDefined": "NP_001340878.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS689997" }, { "@id": "http://reg.genome.network/allele/PA2827762963", "coordinates": [ { "allele": "G", "end": 917, "referenceAllele": "C", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.2:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Leu221Val", "hgvsWellDefined": "NP_001340879.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS689998" }, { "@id": "http://reg.genome.network/allele/PA2827769498", "coordinates": [ { "allele": "G", "end": 960, "referenceAllele": "C", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.2:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Leu221Val", "hgvsWellDefined": "NP_001340880.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS689999" }, { "@id": "http://reg.genome.network/allele/PA2827772566", "coordinates": [ { "allele": "G", "end": 1052, "referenceAllele": "C", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.2:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Leu221Val", "hgvsWellDefined": "NP_001340881.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690000" }, { "@id": "http://reg.genome.network/allele/PA2827775554", "coordinates": [ { "allele": "G", "end": 1052, "referenceAllele": "C", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.2:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Leu221Val", "hgvsWellDefined": "NP_001340883.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690001" }, { "@id": "http://reg.genome.network/allele/PA2827778539", "coordinates": [ { "allele": "G", "end": 960, "referenceAllele": "C", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.2:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Leu221Val", "hgvsWellDefined": "NP_001340884.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690002" }, { "@id": "http://reg.genome.network/allele/PA2827781525", "coordinates": [ { "allele": "G", "end": 960, "referenceAllele": "C", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.2:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Leu221Val", "hgvsWellDefined": "NP_001340886.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690003" }, { "@id": "http://reg.genome.network/allele/PA2827784498", "coordinates": [ { "allele": "G", "end": 917, "referenceAllele": "C", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.2:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Leu221Val", "hgvsWellDefined": "NP_001340887.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690004" }, { "@id": "http://reg.genome.network/allele/PA2827787458", "coordinates": [ { "allele": "G", "end": 1052, "referenceAllele": "C", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.2:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Leu221Val", "hgvsWellDefined": "NP_001340889.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690005" }, { "coordinates": [ { "allele": "G", "end": 1052, "referenceAllele": "C", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.2:c.-1765C>G" ], "proteinEffect": { "hgvs": "NP_001340890.1:n.-1765C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS690006" }, { "@id": "http://reg.genome.network/allele/PA645402658", "coordinates": [ { "allele": "G", "end": 1139, "referenceAllele": "C", "start": 1138 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.6:c.661C>G" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Leu221Val", "hgvsWellDefined": "NP_008851.3:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS696855" }, { "coordinates": [ { "allele": "G", "end": 1047, "referenceAllele": "C", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.2:n.1047C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704821" }, { "@id": "http://reg.genome.network/allele/PA2826008967", "coordinates": [ { "allele": "G", "end": 1139, "referenceAllele": "C", "start": 1138 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.4:c.661C>G" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Leu221Val", "hgvsWellDefined": "NP_001159435.1:p.Leu221Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS713154", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.661C>G" }, "RefSeq": { "hgvs": "NM_001165963.4:c.661C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Leu221Val" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Leu221Val" } } } } ], "type": "nucleotide" }