{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16042613", "communityStandardTitle": [ "NM_003919.3(SGCE):c.232+1G>T" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359695[alleleid]", "alleleId": 359695, "preferredName": "NM_003919.3(SGCE):c.232+1G>T" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372800", "RCV": [ "RCV000412835", "RCV002523920" ], "variationId": 372800 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.94259030C>A?assembly=hg19", "id": "chr7:g.94259030C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.94629718C>A?assembly=hg38", "id": "chr7:g.94629718C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517990", "rs": 1057517990 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 94629718, "referenceAllele": "C", "start": 94629717 } ], "hgvs": [ "NC_000007.14:g.94629718C>A", "CM000669.2:g.94629718C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 94259030, "referenceAllele": "C", "start": 94259029 } ], "hgvs": [ "NC_000007.13:g.94259030C>A", "CM000669.1:g.94259030C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 94096966, "referenceAllele": "C", "start": 94096965 } ], "hgvs": [ "NC_000007.12:g.94096966C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 31492, "referenceAllele": "G", "start": 31491 } ], "hgvs": [ "NG_008893.1:g.31492G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001286" }, { "coordinates": [ { "allele": "T", "end": 31492, "referenceAllele": "G", "start": 31491 } ], "hgvs": [ "NG_008893.2:g.31492G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616118" }, { "coordinates": [ { "allele": "T", "end": 31855, "referenceAllele": "G", "start": 31854 } ], "hgvs": [ "NG_008893.3:g.31855G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS733318" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 428, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 428, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000415788.3:c.340+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000405313.2:n.340+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS754616" }, { "coordinates": [ { "allele": "T", "end": 445, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 445, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000425444.2:c.*270+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000391892.1:n.*270+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS755078" }, { "coordinates": [ { "allele": "T", "end": 239, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 239, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000428696.7:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000397536.3:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS755235" }, { "coordinates": [ { "allele": "T", "end": 188, "endIntronDirection": "-", "endIntronOffset": 1358, "referenceAllele": "G", "start": 188, "startIntronDirection": "-", "startIntronOffset": 1359 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000437425.7:c.110-1359G>T" ], "proteinEffect": { "hgvs": "ENSP00000394061.2:n.110-1359G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS755662" }, { "coordinates": [ { "allele": "T", "end": 280, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 280, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000445866.7:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000398930.2:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS756062" }, { "coordinates": [ { "allele": "T", "end": 341, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 341, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000447873.6:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000388734.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS756146" }, { "coordinates": [ { "allele": "T", "end": 261, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 261, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000450385.6:c.*29+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000398344.2:n.*29+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS756285" }, { "coordinates": [ { "allele": "T", "end": 158, "endIntronDirection": "-", "endIntronOffset": 6320, "referenceAllele": "G", "start": 158, "startIntronDirection": "-", "startIntronOffset": 6321 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642169.1:c.110-6321G>T" ], "proteinEffect": { "hgvs": "ENSP00000496346.1:n.110-6321G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766594" }, { "coordinates": [ { "allele": "T", "end": 93, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 93, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642291.1:c.93+1G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766663" }, { "coordinates": [ { "allele": "T", "end": 203, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 203, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642353.1:n.203+1G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766694" }, { "coordinates": [ { "allele": "T", "end": 130, "endIntronDirection": "-", "endIntronOffset": 1358, "referenceAllele": "G", "start": 130, "startIntronDirection": "-", "startIntronOffset": 1359 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642394.1:c.110-1359G>T" ], "proteinEffect": { "hgvs": "ENSP00000493751.1:n.110-1359G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766719" }, { "coordinates": [ { "allele": "T", "end": 283, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 283, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642441.1:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000495994.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766746" }, { "coordinates": [ { "allele": "T", "end": 332, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 332, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642564.1:n.332+1G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766814" }, { "coordinates": [ { "allele": "T", "end": 431, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 431, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642638.1:c.*270+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000495555.1:n.*270+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766852" }, { "coordinates": [ { "allele": "T", "end": 378, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 378, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642707.1:c.340+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000495270.1:n.340+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766886" }, { "coordinates": [ { "allele": "T", "end": 300, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 300, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642754.1:n.300+1G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766911" }, { "coordinates": [ { "allele": "T", "end": 321, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 321, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642759.1:n.321+1G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766912" }, { "coordinates": [ { "allele": "T", "end": 320, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 320, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642904.1:n.320+1G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766982" }, { "coordinates": [ { "allele": "T", "end": 275, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 275, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642933.1:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000496237.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766996" }, { "coordinates": [ { "allele": "T", "end": 179, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 179, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643020.1:c.179+1G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767045" }, { "coordinates": [ { "allele": "T", "end": 286, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 286, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643041.1:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000495311.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767056" }, { "coordinates": [ { "allele": "T", "end": 279, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 279, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643128.1:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000496678.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767106" }, { "coordinates": [ { "allele": "T", "end": 309, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 309, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643193.1:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000496559.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767145" }, { "coordinates": [ { "allele": "T", "end": 159, "endIntronDirection": "-", "endIntronOffset": 6320, "referenceAllele": "G", "start": 159, "startIntronDirection": "-", "startIntronOffset": 6321 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643206.1:c.110-6321G>T" ], "proteinEffect": { "hgvs": "ENSP00000496172.1:n.110-6321G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767151" }, { "coordinates": [ { "allele": "T", "end": 407, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 407, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643272.1:c.340+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000494488.1:n.340+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767189" }, { "coordinates": [ { "allele": "T", "end": 178, "referenceAllele": "G", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643358.1:n.178G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767240" }, { "coordinates": [ { "allele": "T", "end": 94, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 94, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643368.1:n.94+1G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767244" }, { "coordinates": [ { "allele": "T", "end": 476, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 476, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643605.1:c.*219+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000496480.1:n.*219+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767370" }, { "coordinates": [ { "allele": "T", "end": 287, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 287, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643610.1:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000494350.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767374" }, { "coordinates": [ { "allele": "T", "end": 300, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 300, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643714.1:n.300+1G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767431" }, { "coordinates": [ { "allele": "T", "end": 331, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 331, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643903.1:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000495165.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767533" }, { "coordinates": [ { "allele": "T", "end": 343, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 343, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644087.1:c.*162+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000495249.1:n.*162+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767625" }, { "coordinates": [ { "allele": "T", "end": 281, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 281, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644116.1:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000495276.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767642" }, { "coordinates": [ { "allele": "T", "end": 339, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 339, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644122.1:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000495236.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767645" }, { "coordinates": [ { "allele": "T", "end": 214, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 214, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644201.1:c.214+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000495044.1:n.214+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767694" }, { "coordinates": [ { "allele": "T", "end": 344, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 344, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644375.1:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000494315.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767787" }, { "coordinates": [ { "allele": "T", "end": 320, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 320, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644551.1:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000493981.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767877" }, { "coordinates": [ { "allele": "T", "end": 294, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 294, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644609.1:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000496045.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767899" }, { "coordinates": [ { "allele": "T", "end": 259, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 259, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644639.1:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000496391.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767913" }, { "coordinates": [ { "allele": "T", "end": 133, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 133, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644674.1:n.133+1G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767930" }, { "coordinates": [ { "allele": "T", "end": 404, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 404, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644681.1:c.-42+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000496455.1:n.-42+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767936" }, { "coordinates": [ { "allele": "T", "end": 185, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 185, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644682.1:c.185+1G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767937" }, { "coordinates": [ { "allele": "T", "end": 341, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 341, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644816.1:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000494898.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768014" }, { "coordinates": [ { "allele": "T", "end": 173, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 173, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644924.1:n.173+1G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768078" }, { "coordinates": [ { "allele": "T", "end": 388, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 388, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645101.1:c.340+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000494975.1:n.340+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768173" }, { "coordinates": [ { "allele": "T", "end": 378, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 378, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645109.1:c.340+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000495931.1:n.340+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768178" }, { "coordinates": [ { "allele": "T", "end": 112, "endIntronDirection": "-", "endIntronOffset": 1358, "referenceAllele": "G", "start": 112, "startIntronDirection": "-", "startIntronOffset": 1359 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645262.1:c.110-1359G>T" ], "proteinEffect": { "hgvs": "ENSP00000494164.1:n.110-1359G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768254" }, { "coordinates": [ { "allele": "T", "end": 286, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 286, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645390.1:n.286+1G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768325" }, { "coordinates": [ { "allele": "T", "end": 230, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 230, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645445.1:c.230+1G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768356" }, { "coordinates": [ { "allele": "T", "end": 318, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 318, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645535.1:c.-42+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000493984.1:n.-42+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768410" }, { "coordinates": [ { "allele": "T", "end": 300, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 300, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645579.1:n.300+1G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768441" }, { "coordinates": [ { "allele": "T", "end": 258, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 258, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645725.1:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000495480.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768519" }, { "coordinates": [ { "allele": "T", "end": 201, "endIntronDirection": "-", "endIntronOffset": 1358, "referenceAllele": "G", "start": 201, "startIntronDirection": "-", "startIntronOffset": 1359 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645920.1:c.*40-1359G>T" ], "proteinEffect": { "hgvs": "ENSP00000494490.1:n.*40-1359G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768609" }, { "coordinates": [ { "allele": "T", "end": 303, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 303, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646098.1:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000495591.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768693" }, { "coordinates": [ { "allele": "T", "end": 206, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 206, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646119.1:c.206+1G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768710" }, { "coordinates": [ { "allele": "T", "end": 300, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 300, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646137.1:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000495199.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768720" }, { "coordinates": [ { "allele": "T", "end": 321, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 321, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646265.1:c.321+1G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768784" }, { "coordinates": [ { "allele": "T", "end": 205, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 205, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646301.1:c.205+1G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768804" }, { "coordinates": [ { "allele": "T", "end": 400, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 400, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646434.1:c.400+1G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768869" }, { "coordinates": [ { "allele": "T", "end": 345, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 345, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646466.1:c.*162+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000493511.1:n.*162+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768891" }, { "coordinates": [ { "allele": "T", "end": 382, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 382, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646489.1:c.340+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000496268.1:n.340+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768903" }, { "coordinates": [ { "allele": "T", "end": 369, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 369, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646559.1:c.*162+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000495838.1:n.*162+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768938" }, { "coordinates": [ { "allele": "T", "end": 382, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 382, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646600.1:c.*162+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000494041.1:n.*162+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768965" }, { "coordinates": [ { "allele": "T", "end": 238, "endIntronDirection": "-", "endIntronOffset": 1358, "referenceAllele": "G", "start": 238, "startIntronDirection": "-", "startIntronOffset": 1359 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646682.1:c.*40-1359G>T" ], "proteinEffect": { "hgvs": "ENSP00000496461.1:n.*40-1359G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769008" }, { "coordinates": [ { "allele": "T", "end": 176, "endIntronDirection": "-", "endIntronOffset": 1358, "referenceAllele": "G", "start": 176, "startIntronDirection": "-", "startIntronOffset": 1359 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646761.1:n.177-1359G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769054" }, { "coordinates": [ { "allele": "T", "end": 283, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 283, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646879.1:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000495209.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769112" }, { "coordinates": [ { "allele": "T", "end": 265, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 265, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646910.1:n.265+1G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769133" }, { "coordinates": [ { "allele": "T", "end": 260, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 260, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646943.1:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000494666.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769152" }, { "coordinates": [ { "allele": "T", "end": 394, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 394, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647018.1:c.340+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000493722.1:n.340+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769193" }, { "coordinates": [ { "allele": "T", "end": 56, "endIntronDirection": "-", "endIntronOffset": 1358, "referenceAllele": "G", "start": 56, "startIntronDirection": "-", "startIntronOffset": 1359 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647048.1:c.57-1359G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769208" }, { "coordinates": [ { "allele": "T", "end": 358, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 358, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647096.1:c.340+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000494192.1:n.340+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769230" }, { "coordinates": [ { "allele": "T", "end": 127, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 127, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647110.1:c.127+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000494738.1:n.127+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769238" }, { "coordinates": [ { "allele": "T", "end": 338, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 338, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647334.1:c.338+1G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769357" }, { "coordinates": [ { "allele": "T", "end": 260, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 260, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647351.1:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000494556.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769368" }, { "coordinates": [ { "allele": "T", "end": 267, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 267, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000648936.2:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000497130.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS770269", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648936.2:c.232+1G>T" }, "RefSeq": { "hgvs": "NM_003919.3:c.232+1G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497130.1:n.232+1G>T" }, "RefSeq": { "hgvs": "NP_003910.1:n.232+1G>T" } } } }, { "coordinates": [ { "allele": "T", "end": 343, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 343, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000265735.11:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000265735.6:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS251813" }, { "coordinates": [ { "allele": "T", "end": 428, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 428, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000415788.2:c.340+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000405313.2:n.340+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS284151" }, { "coordinates": [ { "allele": "T", "end": 369, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 369, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000425444.1:c.*162+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000391892.1:n.*162+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS288762" }, { "coordinates": [ { "allele": "T", "end": 232, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 232, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000428696.6:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000397536.2:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS290318" }, { "coordinates": [ { "allele": "T", "end": 177, "endIntronDirection": "-", "endIntronOffset": 1358, "referenceAllele": "G", "start": 177, "startIntronDirection": "-", "startIntronOffset": 1359 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000437425.6:c.110-1359G>T" ], "proteinEffect": { "hgvs": "ENSP00000394061.2:n.110-1359G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS294460" }, { "coordinates": [ { "allele": "T", "end": 258, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 258, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000445866.6:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000398930.2:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS298479" }, { "coordinates": [ { "allele": "T", "end": 300, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 300, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000447873.5:c.232+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000388734.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS299469" }, { "coordinates": [ { "allele": "T", "end": 431, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 431, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000450385.5:c.*270+1G>T" ], "proteinEffect": { "hgvs": "ENSP00000398344.1:n.*270+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS300679" }, { "coordinates": [ { "allele": "T", "end": 343, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 343, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099400.1:c.232+1G>T" ], "proteinEffect": { "hgvs": "NP_001092870.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS010734" }, { "coordinates": [ { "allele": "T", "end": 343, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 343, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099401.1:c.232+1G>T" ], "proteinEffect": { "hgvs": "NP_001092871.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS010735" }, { "coordinates": [ { "allele": "T", "end": 220, "endIntronDirection": "-", "endIntronOffset": 1358, "referenceAllele": "G", "start": 220, "startIntronDirection": "-", "startIntronOffset": 1359 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001301139.1:c.110-1359G>T" ], "proteinEffect": { "hgvs": "NP_001288068.1:n.110-1359G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS025125" }, { "coordinates": [ { "allele": "T", "end": 343, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 343, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_003919.2:c.232+1G>T" ], "proteinEffect": { "hgvs": "NP_003910.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS029129" }, { "coordinates": [ { "allele": "T", "end": 423, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 423, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_005250675.3:c.340+1G>T" ], "proteinEffect": { "hgvs": "XP_005250732.1:n.340+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS059257" }, { "coordinates": [ { "allele": "T", "end": 423, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 423, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_005250677.3:c.340+1G>T" ], "proteinEffect": { "hgvs": "XP_005250734.1:n.340+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS059258" }, { "coordinates": [ { "allele": "A", "end": 2192, "endIntronDirection": "-", "endIntronOffset": 1597, "referenceAllele": "C", "start": 2192, "startIntronDirection": "-", "startIntronOffset": 1598 } ], "gene": "http://reg.genome.network/gene/GN016014", "geneNCBI_id": 64921, "geneSymbol": "CASD1", "hgvs": [ "XM_011516495.1:c.2128-1598C>A" ], "proteinEffect": { "hgvs": "XP_011514797.1:n.2128-1598C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS083696" }, { "coordinates": [ { "allele": "T", "end": 423, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 423, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516663.1:c.340+1G>T" ], "proteinEffect": { "hgvs": "XP_011514965.1:n.340+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS083863" }, { "coordinates": [ { "allele": "T", "end": 423, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 423, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516664.1:c.340+1G>T" ], "proteinEffect": { "hgvs": "XP_011514966.1:n.340+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS083864" }, { "coordinates": [ { "allele": "T", "end": 339, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 339, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516665.1:c.232+1G>T" ], "proteinEffect": { "hgvs": "XP_011514967.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS083865" }, { "coordinates": [ { "allele": "T", "end": 339, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 339, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516666.1:c.232+1G>T" ], "proteinEffect": { "hgvs": "XP_011514968.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS083866" }, { "coordinates": [ { "allele": "T", "end": 432, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 432, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516667.1:c.145+1G>T" ], "proteinEffect": { "hgvs": "XP_011514969.1:n.145+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS083867" }, { "coordinates": [ { "allele": "T", "end": 182, "endIntronDirection": "-", "endIntronOffset": 1358, "referenceAllele": "G", "start": 182, "startIntronDirection": "-", "startIntronOffset": 1359 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516668.1:c.110-1359G>T" ], "proteinEffect": { "hgvs": "XP_011514970.1:n.110-1359G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS083868" }, { "coordinates": [ { "allele": "T", "end": 364, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 364, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516669.1:c.-42+1G>T" ], "proteinEffect": { "hgvs": "XP_011514971.1:n.-42+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS083869" }, { "coordinates": [ { "allele": "T", "end": 451, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 451, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346713.1:c.340+1G>T" ], "proteinEffect": { "hgvs": "NP_001333642.1:n.340+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS517651" }, { "coordinates": [ { "allele": "T", "end": 451, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 451, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346715.1:c.340+1G>T" ], "proteinEffect": { "hgvs": "NP_001333644.1:n.340+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS517653" }, { "coordinates": [ { "allele": "T", "end": 343, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 343, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346717.1:c.232+1G>T" ], "proteinEffect": { "hgvs": "NP_001333646.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS517655" }, { "coordinates": [ { "allele": "T", "end": 513, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 513, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346719.1:c.145+1G>T" ], "proteinEffect": { "hgvs": "NP_001333648.1:n.145+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS517656" }, { "coordinates": [ { "allele": "T", "end": 405, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 405, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346720.1:c.-42+1G>T" ], "proteinEffect": { "hgvs": "NP_001333649.1:n.-42+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS517657" }, { "coordinates": [ { "allele": "T", "end": 519, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 519, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362807.1:c.145+1G>T" ], "proteinEffect": { "hgvs": "NP_001349736.1:n.145+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS523075" }, { "coordinates": [ { "allele": "T", "end": 405, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 405, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362808.1:c.-42+1G>T" ], "proteinEffect": { "hgvs": "NP_001349737.1:n.-42+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS523076" }, { "coordinates": [ { "allele": "T", "end": 220, "endIntronDirection": "-", "endIntronOffset": 1358, "referenceAllele": "G", "start": 220, "startIntronDirection": "-", "startIntronOffset": 1359 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362809.1:c.110-1359G>T" ], "proteinEffect": { "hgvs": "NP_001349738.1:n.110-1359G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS523077" }, { "coordinates": [ { "allele": "A", "end": 2192, "endIntronDirection": "-", "endIntronOffset": 1597, "referenceAllele": "C", "start": 2192, "startIntronDirection": "-", "startIntronOffset": 1598 } ], "gene": "http://reg.genome.network/gene/GN016014", "geneNCBI_id": 64921, "geneSymbol": "CASD1", "hgvs": [ "XM_011516495.2:c.2128-1598C>A" ], "proteinEffect": { "hgvs": "XP_011514797.1:n.2128-1598C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS544191" }, { "coordinates": [ { "allele": "T", "end": 426, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 426, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516663.2:c.340+1G>T" ], "proteinEffect": { "hgvs": "XP_011514965.1:n.340+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS544255" }, { "coordinates": [ { "allele": "T", "end": 426, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 426, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516664.2:c.340+1G>T" ], "proteinEffect": { "hgvs": "XP_011514966.1:n.340+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS544256" }, { "coordinates": [ { "allele": "T", "end": 339, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 339, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516665.3:c.232+1G>T" ], "proteinEffect": { "hgvs": "XP_011514967.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS544257" }, { "coordinates": [ { "allele": "T", "end": 339, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 339, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516666.3:c.232+1G>T" ], "proteinEffect": { "hgvs": "XP_011514968.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS544258" }, { "coordinates": [ { "allele": "T", "end": 458, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 458, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516667.2:c.145+1G>T" ], "proteinEffect": { "hgvs": "XP_011514969.1:n.145+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS544259" }, { "coordinates": [ { "allele": "T", "end": 363, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 363, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516669.3:c.-42+1G>T" ], "proteinEffect": { "hgvs": "XP_011514971.1:n.-42+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS544260" }, { "coordinates": [ { "allele": "T", "end": 294, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 294, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_017012763.1:c.145+1G>T" ], "proteinEffect": { "hgvs": "XP_016868252.1:n.145+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS566278" }, { "coordinates": [ { "allele": "T", "end": 377, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 377, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_017012767.1:c.-42+1G>T" ], "proteinEffect": { "hgvs": "XP_016868256.1:n.-42+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS566279" }, { "coordinates": [ { "allele": "T", "end": 172, "endIntronDirection": "-", "endIntronOffset": 1358, "referenceAllele": "G", "start": 172, "startIntronDirection": "-", "startIntronOffset": 1359 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_024446985.1:c.110-1359G>T" ], "proteinEffect": { "hgvs": "XP_024302753.1:n.110-1359G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580613" }, { "coordinates": [ { "allele": "T", "end": 177, "endIntronDirection": "-", "endIntronOffset": 1358, "referenceAllele": "G", "start": 177, "startIntronDirection": "-", "startIntronOffset": 1359 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_024446986.1:c.110-1359G>T" ], "proteinEffect": { "hgvs": "XP_024302754.1:n.110-1359G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580614" }, { "coordinates": [ { "allele": "T", "end": 267, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 267, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099400.2:c.232+1G>T" ], "proteinEffect": { "hgvs": "NP_001092870.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS676500" }, { "coordinates": [ { "allele": "T", "end": 267, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 267, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099401.2:c.232+1G>T" ], "proteinEffect": { "hgvs": "NP_001092871.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS676501" }, { "coordinates": [ { "allele": "T", "end": 144, "endIntronDirection": "-", "endIntronOffset": 1358, "referenceAllele": "G", "start": 144, "startIntronDirection": "-", "startIntronOffset": 1359 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001301139.2:c.110-1359G>T" ], "proteinEffect": { "hgvs": "NP_001288068.1:n.110-1359G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS683363" }, { "coordinates": [ { "allele": "T", "end": 375, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 375, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346713.2:c.340+1G>T" ], "proteinEffect": { "hgvs": "NP_001333642.1:n.340+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS687417" }, { "coordinates": [ { "allele": "T", "end": 375, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 375, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346715.2:c.340+1G>T" ], "proteinEffect": { "hgvs": "NP_001333644.1:n.340+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS687418" }, { "coordinates": [ { "allele": "T", "end": 267, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 267, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346717.2:c.232+1G>T" ], "proteinEffect": { "hgvs": "NP_001333646.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS687419" }, { "coordinates": [ { "allele": "T", "end": 437, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 437, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346719.2:c.145+1G>T" ], "proteinEffect": { "hgvs": "NP_001333648.1:n.145+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS687420" }, { "coordinates": [ { "allele": "T", "end": 329, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 329, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346720.2:c.-42+1G>T" ], "proteinEffect": { "hgvs": "NP_001333649.1:n.-42+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS687421" }, { "coordinates": [ { "allele": "T", "end": 443, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 443, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362807.2:c.145+1G>T" ], "proteinEffect": { "hgvs": "NP_001349736.1:n.145+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS690548" }, { "coordinates": [ { "allele": "T", "end": 329, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 329, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362808.2:c.-42+1G>T" ], "proteinEffect": { "hgvs": "NP_001349737.1:n.-42+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS690549" }, { "coordinates": [ { "allele": "T", "end": 144, "endIntronDirection": "-", "endIntronOffset": 1358, "referenceAllele": "G", "start": 144, "startIntronDirection": "-", "startIntronOffset": 1359 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362809.2:c.110-1359G>T" ], "proteinEffect": { "hgvs": "NP_001349738.1:n.110-1359G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS690550" }, { "coordinates": [ { "allele": "T", "end": 267, "endIntronDirection": "+", "endIntronOffset": 1, "referenceAllele": "G", "start": 267, "startIntronDirection": "+", "startIntronOffset": 0 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_003919.3:c.232+1G>T" ], "proteinEffect": { "hgvs": "NP_003910.1:n.232+1G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS695983", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648936.2:c.232+1G>T" }, "RefSeq": { "hgvs": "NM_003919.3:c.232+1G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497130.1:n.232+1G>T" }, "RefSeq": { "hgvs": "NP_003910.1:n.232+1G>T" } } } } ], "type": "nucleotide" }