{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA4348613", "communityStandardTitle": [ "NM_003919.3(SGCE):c.1165G>C (p.Val389Leu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=683948[alleleid]", "alleleId": 683948, "preferredName": "NM_003919.3(SGCE):c.1165G>C (p.Val389Leu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/696425", "RCV": [ "RCV000862771", "RCV001567616" ], "variationId": 696425 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/7-94228175-C-G", "id": "7-94228175-C-G", "variant": "7:94228175 C / G" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.94228175C>G?assembly=hg19", "id": "chr7:g.94228175C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.94598863C>G?assembly=hg38", "id": "chr7:g.94598863C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/374697567", "rs": 374697567 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-94228175-C-G?dataset=gnomad_r2_1", "id": "7-94228175-C-G", "variant": "7:94228175 C / G" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-94598863-C-G?dataset=gnomad_r3", "id": "7-94598863-C-G", "variant": "7:94598863 C / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-94598863-C-G?dataset=gnomad_r4", "id": "7-94598863-C-G", "variant": "7:94598863 C / G" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "G", "end": 94598863, "referenceAllele": "C", "start": 94598862 } ], "hgvs": [ "NC_000007.14:g.94598863C>G", "CM000669.2:g.94598863C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "G", "end": 94228175, "referenceAllele": "C", "start": 94228174 } ], "hgvs": [ "NC_000007.13:g.94228175C>G", "CM000669.1:g.94228175C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "G", "end": 94066111, "referenceAllele": "C", "start": 94066110 } ], "hgvs": [ "NC_000007.12:g.94066111C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "C", "end": 62347, "referenceAllele": "G", "start": 62346 } ], "hgvs": [ "NG_008893.1:g.62347G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001286" }, { "coordinates": [ { "allele": "C", "end": 62347, "referenceAllele": "G", "start": 62346 } ], "hgvs": [ "NG_008893.2:g.62347G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS616118" }, { "coordinates": [ { "allele": "C", "end": 62710, "referenceAllele": "G", "start": 62709 } ], "hgvs": [ "NG_008893.3:g.62710G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS733318" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1361, "referenceAllele": "G", "start": 1360 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000415788.3:c.1273G>C" ], "proteinEffect": { "hgvs": "ENSP00000405313.2:p.Val425Leu", "hgvsWellDefined": "ENSP00000405313.2:p.Val425Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS754616" }, { "coordinates": [ { "allele": "C", "end": 1124, "referenceAllele": "G", "start": 1123 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000428696.7:c.1117G>C" ], "proteinEffect": { "hgvs": "ENSP00000397536.3:p.Val373Leu", "hgvsWellDefined": "ENSP00000397536.3:p.Val373Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS755235" }, { "coordinates": [ { "allele": "C", "end": 1121, "referenceAllele": "G", "start": 1120 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000437425.7:c.1042G>C" ], "proteinEffect": { "hgvs": "ENSP00000394061.2:p.Val348Leu", "hgvsWellDefined": "ENSP00000394061.2:p.Val348Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS755662" }, { "coordinates": [ { "allele": "C", "end": 1213, "referenceAllele": "G", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000445866.7:c.1165G>C" ], "proteinEffect": { "hgvs": "ENSP00000398930.2:p.Val389Leu", "hgvsWellDefined": "ENSP00000398930.2:p.Val389Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS756062" }, { "coordinates": [ { "allele": "C", "end": 1247, "referenceAllele": "G", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000447873.6:c.1138G>C" ], "proteinEffect": { "hgvs": "ENSP00000388734.1:p.Val380Leu", "hgvsWellDefined": "ENSP00000388734.1:p.Val380Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS756146" }, { "coordinates": [ { "allele": "C", "end": 1100, "referenceAllele": "G", "start": 1099 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642291.1:c.1100G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS766663" }, { "coordinates": [ { "allele": "C", "end": 1136, "referenceAllele": "G", "start": 1135 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642353.1:n.1136G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS766694" }, { "coordinates": [ { "allele": "C", "end": 1036, "referenceAllele": "G", "start": 1035 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642394.1:c.1015G>C" ], "proteinEffect": { "hgvs": "ENSP00000493751.1:p.Val339Leu", "hgvsWellDefined": "ENSP00000493751.1:p.Val339Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS766719" }, { "coordinates": [ { "allele": "C", "end": 1270, "referenceAllele": "G", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642441.1:c.1219G>C" ], "proteinEffect": { "hgvs": "ENSP00000495994.1:p.Val407Leu", "hgvsWellDefined": "ENSP00000495994.1:p.Val407Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS766746" }, { "coordinates": [ { "allele": "C", "end": 1911, "referenceAllele": "G", "start": 1910 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642497.1:n.1911G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS766776" }, { "coordinates": [ { "allele": "C", "end": 1265, "referenceAllele": "G", "start": 1264 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642564.1:n.1265G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS766814" }, { "coordinates": [ { "allele": "C", "end": 1364, "referenceAllele": "G", "start": 1363 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642638.1:c.*1203G>C" ], "proteinEffect": { "hgvs": "ENSP00000495555.1:n.*1203G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS766852" }, { "coordinates": [ { "allele": "C", "end": 1284, "referenceAllele": "G", "start": 1283 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642707.1:c.1246G>C" ], "proteinEffect": { "hgvs": "ENSP00000495270.1:p.Val416Leu", "hgvsWellDefined": "ENSP00000495270.1:p.Val416Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS766886" }, { "coordinates": [ { "allele": "C", "end": 6037, "referenceAllele": "G", "start": 6036 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642754.1:n.6037G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS766911" }, { "coordinates": [ { "allele": "C", "end": 1227, "referenceAllele": "G", "start": 1226 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642759.1:n.1227G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS766912" }, { "coordinates": [ { "allele": "C", "end": 960, "referenceAllele": "G", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642802.1:n.960G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS766930" }, { "coordinates": [ { "allele": "C", "end": 1226, "referenceAllele": "G", "start": 1225 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642904.1:n.1226G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS766982" }, { "coordinates": [ { "allele": "C", "end": 1181, "referenceAllele": "G", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642933.1:c.1138G>C" ], "proteinEffect": { "hgvs": "ENSP00000496237.1:p.Val380Leu", "hgvsWellDefined": "ENSP00000496237.1:p.Val380Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS766996" }, { "coordinates": [ { "allele": "C", "end": 1091, "referenceAllele": "G", "start": 1090 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643020.1:c.1091G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS767045" }, { "coordinates": [ { "allele": "C", "end": 1293, "referenceAllele": "G", "start": 1292 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643041.1:c.*126G>C" ], "proteinEffect": { "hgvs": "ENSP00000495311.1:n.*126G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS767056" }, { "coordinates": [ { "allele": "C", "end": 1212, "referenceAllele": "G", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643128.1:c.1165G>C" ], "proteinEffect": { "hgvs": "ENSP00000496678.1:p.Val389Leu", "hgvsWellDefined": "ENSP00000496678.1:p.Val389Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS767106" }, { "coordinates": [ { "allele": "C", "end": 396, "referenceAllele": "G", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643160.1:c.396G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS767126" }, { "coordinates": [ { "allele": "C", "end": 1215, "referenceAllele": "G", "start": 1214 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643193.1:c.1138G>C" ], "proteinEffect": { "hgvs": "ENSP00000496559.1:p.Val380Leu", "hgvsWellDefined": "ENSP00000496559.1:p.Val380Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS767145" }, { "coordinates": [ { "allele": "C", "end": 934, "referenceAllele": "G", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643206.1:c.*746G>C" ], "proteinEffect": { "hgvs": "ENSP00000496172.1:n.*746G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS767151" }, { "coordinates": [ { "allele": "C", "end": 1313, "referenceAllele": "G", "start": 1312 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643272.1:c.1246G>C" ], "proteinEffect": { "hgvs": "ENSP00000494488.1:p.Val416Leu", "hgvsWellDefined": "ENSP00000494488.1:p.Val416Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS767189" }, { "coordinates": [ { "allele": "C", "end": 2056, "referenceAllele": "G", "start": 2055 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643324.1:n.2056G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS767215" }, { "coordinates": [ { "allele": "C", "end": 1066, "referenceAllele": "G", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643491.1:n.1066G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS767309" }, { "coordinates": [ { "allele": "C", "end": 819, "referenceAllele": "G", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643568.1:c.819G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS767349" }, { "coordinates": [ { "allele": "C", "end": 1382, "referenceAllele": "G", "start": 1381 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643605.1:c.*1125G>C" ], "proteinEffect": { "hgvs": "ENSP00000496480.1:n.*1125G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS767370" }, { "coordinates": [ { "allele": "C", "end": 1220, "referenceAllele": "G", "start": 1219 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643610.1:c.1165G>C" ], "proteinEffect": { "hgvs": "ENSP00000494350.1:p.Val389Leu", "hgvsWellDefined": "ENSP00000494350.1:p.Val389Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS767374" }, { "coordinates": [ { "allele": "C", "end": 1206, "referenceAllele": "G", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643714.1:n.1206G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS767431" }, { "coordinates": [ { "allele": "C", "end": 1237, "referenceAllele": "G", "start": 1236 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643903.1:c.1138G>C" ], "proteinEffect": { "hgvs": "ENSP00000495165.1:p.Val380Leu", "hgvsWellDefined": "ENSP00000495165.1:p.Val380Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS767533" }, { "coordinates": [ { "allele": "C", "end": 1047, "referenceAllele": "G", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643991.1:c.1047G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS767578" }, { "coordinates": [ { "allele": "C", "end": 1396, "referenceAllele": "G", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644087.1:c.*1215G>C" ], "proteinEffect": { "hgvs": "ENSP00000495249.1:n.*1215G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS767625" }, { "coordinates": [ { "allele": "C", "end": 1187, "referenceAllele": "G", "start": 1186 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644116.1:c.1138G>C" ], "proteinEffect": { "hgvs": "ENSP00000495276.1:p.Val380Leu", "hgvsWellDefined": "ENSP00000495276.1:p.Val380Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS767642" }, { "coordinates": [ { "allele": "C", "end": 1353, "referenceAllele": "G", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644122.1:c.1246G>C" ], "proteinEffect": { "hgvs": "ENSP00000495236.1:p.Val416Leu", "hgvsWellDefined": "ENSP00000495236.1:p.Val416Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS767645" }, { "coordinates": [ { "allele": "C", "end": 1758, "referenceAllele": "G", "start": 1757 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644268.1:n.1758G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS767733" }, { "coordinates": [ { "allele": "C", "end": 2174, "referenceAllele": "G", "start": 2173 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644373.1:n.2174G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS767785" }, { "coordinates": [ { "allele": "C", "end": 1316, "referenceAllele": "G", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644375.1:c.1204G>C" ], "proteinEffect": { "hgvs": "ENSP00000494315.1:p.Val402Leu", "hgvsWellDefined": "ENSP00000494315.1:p.Val402Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS767787" }, { "coordinates": [ { "allele": "C", "end": 1920, "referenceAllele": "G", "start": 1919 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644533.1:n.1920G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS767866" }, { "coordinates": [ { "allele": "C", "end": 1334, "referenceAllele": "G", "start": 1333 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644551.1:c.1246G>C" ], "proteinEffect": { "hgvs": "ENSP00000493981.1:p.Val416Leu", "hgvsWellDefined": "ENSP00000493981.1:p.Val416Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS767877" }, { "coordinates": [ { "allele": "C", "end": 1200, "referenceAllele": "G", "start": 1199 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644609.1:c.1138G>C" ], "proteinEffect": { "hgvs": "ENSP00000496045.1:p.Val380Leu", "hgvsWellDefined": "ENSP00000496045.1:p.Val380Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS767899" }, { "coordinates": [ { "allele": "C", "end": 1312, "referenceAllele": "G", "start": 1311 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644639.1:c.*799G>C" ], "proteinEffect": { "hgvs": "ENSP00000496391.1:n.*799G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS767913" }, { "coordinates": [ { "allele": "C", "end": 517, "referenceAllele": "G", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644658.1:c.517G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS767924" }, { "coordinates": [ { "allele": "C", "end": 1066, "referenceAllele": "G", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644674.1:n.1066G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS767930" }, { "coordinates": [ { "allele": "C", "end": 1310, "referenceAllele": "G", "start": 1309 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644681.1:c.865G>C" ], "proteinEffect": { "hgvs": "ENSP00000496455.1:p.Val289Leu", "hgvsWellDefined": "ENSP00000496455.1:p.Val289Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS767936" }, { "coordinates": [ { "allele": "C", "end": 1202, "referenceAllele": "G", "start": 1201 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644682.1:c.1202G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS767937" }, { "coordinates": [ { "allele": "C", "end": 1274, "referenceAllele": "G", "start": 1273 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644816.1:c.1165G>C" ], "proteinEffect": { "hgvs": "ENSP00000494898.1:p.Val389Leu", "hgvsWellDefined": "ENSP00000494898.1:p.Val389Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS768014" }, { "coordinates": [ { "allele": "C", "end": 1375, "referenceAllele": "G", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645101.1:c.1327G>C" ], "proteinEffect": { "hgvs": "ENSP00000494975.1:p.Val443Leu", "hgvsWellDefined": "ENSP00000494975.1:p.Val443Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS768173" }, { "coordinates": [ { "allele": "C", "end": 1311, "referenceAllele": "G", "start": 1310 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645109.1:c.1273G>C" ], "proteinEffect": { "hgvs": "ENSP00000495931.1:p.Val425Leu", "hgvsWellDefined": "ENSP00000495931.1:p.Val425Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS768178" }, { "coordinates": [ { "allele": "C", "end": 1018, "referenceAllele": "G", "start": 1017 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645262.1:c.1015G>C" ], "proteinEffect": { "hgvs": "ENSP00000494164.1:p.Val339Leu", "hgvsWellDefined": "ENSP00000494164.1:p.Val339Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS768254" }, { "coordinates": [ { "allele": "C", "end": 1112, "referenceAllele": "G", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645445.1:c.1112G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS768356" }, { "coordinates": [ { "allele": "C", "end": 1224, "referenceAllele": "G", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645535.1:c.865G>C" ], "proteinEffect": { "hgvs": "ENSP00000493984.1:p.Val289Leu", "hgvsWellDefined": "ENSP00000493984.1:p.Val289Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS768410" }, { "coordinates": [ { "allele": "C", "end": 2058, "referenceAllele": "G", "start": 2057 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645579.1:n.2058G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS768441" }, { "coordinates": [ { "allele": "C", "end": 701, "referenceAllele": "G", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645624.1:n.701G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS768463" }, { "coordinates": [ { "allele": "C", "end": 384, "referenceAllele": "G", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645665.1:n.384G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS768488" }, { "coordinates": [ { "allele": "C", "end": 1245, "referenceAllele": "G", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645725.1:c.1219G>C" ], "proteinEffect": { "hgvs": "ENSP00000495480.1:p.Val407Leu", "hgvsWellDefined": "ENSP00000495480.1:p.Val407Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS768519" }, { "coordinates": [ { "allele": "C", "end": 56, "endIntronDirection": "+", "endIntronOffset": 834, "referenceAllele": "G", "start": 56, "startIntronDirection": "+", "startIntronOffset": 833 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645804.1:c.56+834G>C" ], "proteinEffect": { "hgvs": "ENSP00000494688.1:n.56+834G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS768552" }, { "coordinates": [ { "allele": "C", "end": 1212, "referenceAllele": "G", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646098.1:c.1141G>C" ], "proteinEffect": { "hgvs": "ENSP00000495591.1:p.Val381Leu", "hgvsWellDefined": "ENSP00000495591.1:p.Val381Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS768693" }, { "coordinates": [ { "allele": "C", "end": 1139, "referenceAllele": "G", "start": 1138 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646119.1:c.1139G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS768710" }, { "coordinates": [ { "allele": "C", "end": 1206, "referenceAllele": "G", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646137.1:c.1138G>C" ], "proteinEffect": { "hgvs": "ENSP00000495199.1:p.Val380Leu", "hgvsWellDefined": "ENSP00000495199.1:p.Val380Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS768720" }, { "coordinates": [ { "allele": "C", "end": 1227, "referenceAllele": "G", "start": 1226 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646265.1:c.1227G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS768784" }, { "coordinates": [ { "allele": "C", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646301.1:c.1111G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS768804" }, { "coordinates": [ { "allele": "C", "end": 1387, "referenceAllele": "G", "start": 1386 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646434.1:c.1387G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS768869" }, { "coordinates": [ { "allele": "C", "end": 1251, "referenceAllele": "G", "start": 1250 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646466.1:c.*1068G>C" ], "proteinEffect": { "hgvs": "ENSP00000493511.1:n.*1068G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS768891" }, { "coordinates": [ { "allele": "C", "end": 1315, "referenceAllele": "G", "start": 1314 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646489.1:c.1273G>C" ], "proteinEffect": { "hgvs": "ENSP00000496268.1:p.Val425Leu", "hgvsWellDefined": "ENSP00000496268.1:p.Val425Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS768903" }, { "coordinates": [ { "allele": "C", "end": 1302, "referenceAllele": "G", "start": 1301 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646559.1:c.*1095G>C" ], "proteinEffect": { "hgvs": "ENSP00000495838.1:n.*1095G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS768938" }, { "coordinates": [ { "allele": "C", "end": 1288, "referenceAllele": "G", "start": 1287 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646600.1:c.*1068G>C" ], "proteinEffect": { "hgvs": "ENSP00000494041.1:n.*1068G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS768965" }, { "coordinates": [ { "allele": "C", "end": 972, "referenceAllele": "G", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646682.1:c.*773G>C" ], "proteinEffect": { "hgvs": "ENSP00000496461.1:n.*773G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS769008" }, { "coordinates": [ { "allele": "C", "end": 1189, "referenceAllele": "G", "start": 1188 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646879.1:c.1138G>C" ], "proteinEffect": { "hgvs": "ENSP00000495209.1:p.Val380Leu", "hgvsWellDefined": "ENSP00000495209.1:p.Val380Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS769112" }, { "coordinates": [ { "allele": "C", "end": 1198, "referenceAllele": "G", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646910.1:n.1198G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS769133" }, { "coordinates": [ { "allele": "C", "end": 1193, "referenceAllele": "G", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646943.1:c.1165G>C" ], "proteinEffect": { "hgvs": "ENSP00000494666.1:p.Val389Leu", "hgvsWellDefined": "ENSP00000494666.1:p.Val389Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS769152" }, { "coordinates": [ { "allele": "C", "end": 1327, "referenceAllele": "G", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647018.1:c.1273G>C" ], "proteinEffect": { "hgvs": "ENSP00000493722.1:p.Val425Leu", "hgvsWellDefined": "ENSP00000493722.1:p.Val425Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS769193" }, { "coordinates": [ { "allele": "C", "end": 3752, "referenceAllele": "G", "start": 3751 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647031.1:n.3752G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS769199" }, { "coordinates": [ { "allele": "C", "end": 962, "referenceAllele": "G", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647048.1:c.962G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS769208" }, { "coordinates": [ { "allele": "C", "end": 1291, "referenceAllele": "G", "start": 1290 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647096.1:c.1273G>C" ], "proteinEffect": { "hgvs": "ENSP00000494192.1:p.Val425Leu", "hgvsWellDefined": "ENSP00000494192.1:p.Val425Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS769230" }, { "coordinates": [ { "allele": "C", "end": 1144, "referenceAllele": "G", "start": 1143 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647110.1:c.1144G>C" ], "proteinEffect": { "hgvs": "ENSP00000494738.1:p.Val382Leu", "hgvsWellDefined": "ENSP00000494738.1:p.Val382Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS769238" }, { "coordinates": [ { "allele": "C", "end": 1244, "referenceAllele": "G", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647334.1:c.1244G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS769357" }, { "coordinates": [ { "allele": "C", "end": 1274, "referenceAllele": "G", "start": 1273 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647351.1:c.1246G>C" ], "proteinEffect": { "hgvs": "ENSP00000494556.1:p.Val416Leu", "hgvsWellDefined": "ENSP00000494556.1:p.Val416Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS769368" }, { "coordinates": [ { "allele": "C", "end": 378, "referenceAllele": "G", "start": 377 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647379.1:n.378G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS769379" }, { "coordinates": [ { "allele": "C", "end": 2786, "referenceAllele": "G", "start": 2785 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647533.1:n.2786G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS769468" }, { "coordinates": [ { "allele": "C", "end": 1200, "referenceAllele": "G", "start": 1199 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000648936.2:c.1165G>C" ], "proteinEffect": { "hgvs": "ENSP00000497130.1:p.Val389Leu", "hgvsWellDefined": "ENSP00000497130.1:p.Val389Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS770269", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648936.2:c.1165G>C" }, "RefSeq": { "hgvs": "NM_003919.3:c.1165G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497130.1:p.Val389Leu" }, "RefSeq": { "hgvs": "NP_003910.1:p.Val389Leu" } } } }, { "coordinates": [ { "allele": "C", "end": 1276, "referenceAllele": "G", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000265735.11:c.1165G>C" ], "proteinEffect": { "hgvs": "ENSP00000265735.6:p.Val389Leu", "hgvsWellDefined": "ENSP00000265735.6:p.Val389Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS251813" }, { "coordinates": [ { "allele": "C", "end": 1361, "referenceAllele": "G", "start": 1360 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000415788.2:c.1273G>C" ], "proteinEffect": { "hgvs": "ENSP00000405313.2:p.Val425Leu", "hgvsWellDefined": "ENSP00000405313.2:p.Val425Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS284151" }, { "coordinates": [ { "allele": "C", "end": 1138, "referenceAllele": "G", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000428696.6:c.1138G>C" ], "proteinEffect": { "hgvs": "ENSP00000397536.2:p.Val380Leu", "hgvsWellDefined": "ENSP00000397536.2:p.Val380Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS290318" }, { "coordinates": [ { "allele": "C", "end": 1110, "referenceAllele": "G", "start": 1109 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000437425.6:c.1042G>C" ], "proteinEffect": { "hgvs": "ENSP00000394061.2:p.Val348Leu", "hgvsWellDefined": "ENSP00000394061.2:p.Val348Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS294460" }, { "coordinates": [ { "allele": "C", "end": 1191, "referenceAllele": "G", "start": 1190 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000445866.6:c.1165G>C" ], "proteinEffect": { "hgvs": "ENSP00000398930.2:p.Val389Leu", "hgvsWellDefined": "ENSP00000398930.2:p.Val389Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS298479" }, { "coordinates": [ { "allele": "C", "end": 1206, "referenceAllele": "G", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000447873.5:c.1138G>C" ], "proteinEffect": { "hgvs": "ENSP00000388734.1:p.Val380Leu", "hgvsWellDefined": "ENSP00000388734.1:p.Val380Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS299469" }, { "coordinates": [ { "allele": "C", "end": 275, "referenceAllele": "G", "start": 274 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000472326.2:n.275G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS314326" }, { "coordinates": [ { "allele": "C", "end": 122, "endIntronDirection": "+", "endIntronOffset": 834, "referenceAllele": "G", "start": 122, "startIntronDirection": "+", "startIntronOffset": 833 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000522045.5:c.122+834G>C" ], "proteinEffect": { "hgvs": "ENSP00000431080.1:n.122+834G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS348737" }, { "@id": "http://reg.genome.network/allele/PA2825536537", "coordinates": [ { "allele": "C", "end": 1249, "referenceAllele": "G", "start": 1248 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099400.1:c.1138G>C" ], "proteinEffect": { "hgvs": "NP_001092870.1:p.Val380Leu", "hgvsWellDefined": "NP_001092870.1:p.Val380Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010734" }, { "@id": "http://reg.genome.network/allele/PA2825536925", "coordinates": [ { "allele": "C", "end": 1276, "referenceAllele": "G", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099401.1:c.1165G>C" ], "proteinEffect": { "hgvs": "NP_001092871.1:p.Val389Leu", "hgvsWellDefined": "NP_001092871.1:p.Val389Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010735" }, { "@id": "http://reg.genome.network/allele/PA2826865205", "coordinates": [ { "allele": "C", "end": 1153, "referenceAllele": "G", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001301139.1:c.1042G>C" ], "proteinEffect": { "hgvs": "NP_001288068.1:p.Val348Leu", "hgvsWellDefined": "NP_001288068.1:p.Val348Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS025125" }, { "@id": "http://reg.genome.network/allele/PA2829454201", "coordinates": [ { "allele": "C", "end": 1276, "referenceAllele": "G", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_003919.2:c.1165G>C" ], "proteinEffect": { "hgvs": "NP_003910.1:p.Val389Leu", "hgvsWellDefined": "NP_003910.1:p.Val389Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS029129" }, { "coordinates": [ { "allele": "C", "end": 1356, "referenceAllele": "G", "start": 1355 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_005250675.3:c.1273G>C" ], "proteinEffect": { "hgvs": "XP_005250732.1:p.Val425Leu", "hgvsWellDefined": "XP_005250732.1:p.Val425Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS059257" }, { "coordinates": [ { "allele": "C", "end": 1329, "referenceAllele": "G", "start": 1328 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_005250677.3:c.1246G>C" ], "proteinEffect": { "hgvs": "XP_005250734.1:p.Val416Leu", "hgvsWellDefined": "XP_005250734.1:p.Val416Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS059258" }, { "coordinates": [ { "allele": "G", "end": 2192, "endIntronDirection": "-", "endIntronOffset": 32452, "referenceAllele": "C", "start": 2192, "startIntronDirection": "-", "startIntronOffset": 32453 } ], "gene": "http://reg.genome.network/gene/GN016014", "geneNCBI_id": 64921, "geneSymbol": "CASD1", "hgvs": [ "XM_011516495.1:c.2128-32453C>G" ], "proteinEffect": { "hgvs": "XP_011514797.1:n.2128-32453C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS083696" }, { "coordinates": [ { "allele": "C", "end": 1356, "referenceAllele": "G", "start": 1355 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516663.1:c.1273G>C" ], "proteinEffect": { "hgvs": "XP_011514965.1:p.Val425Leu", "hgvsWellDefined": "XP_011514965.1:p.Val425Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS083863" }, { "coordinates": [ { "allele": "C", "end": 1329, "referenceAllele": "G", "start": 1328 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516664.1:c.1246G>C" ], "proteinEffect": { "hgvs": "XP_011514966.1:p.Val416Leu", "hgvsWellDefined": "XP_011514966.1:p.Val416Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS083864" }, { "coordinates": [ { "allele": "C", "end": 1272, "referenceAllele": "G", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516665.1:c.1165G>C" ], "proteinEffect": { "hgvs": "XP_011514967.1:p.Val389Leu", "hgvsWellDefined": "XP_011514967.1:p.Val389Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS083865" }, { "coordinates": [ { "allele": "C", "end": 1245, "referenceAllele": "G", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516666.1:c.1138G>C" ], "proteinEffect": { "hgvs": "XP_011514968.1:p.Val380Leu", "hgvsWellDefined": "XP_011514968.1:p.Val380Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS083866" }, { "coordinates": [ { "allele": "C", "end": 1365, "referenceAllele": "G", "start": 1364 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516667.1:c.1078G>C" ], "proteinEffect": { "hgvs": "XP_011514969.1:p.Val360Leu", "hgvsWellDefined": "XP_011514969.1:p.Val360Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS083867" }, { "coordinates": [ { "allele": "C", "end": 1115, "referenceAllele": "G", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516668.1:c.1042G>C" ], "proteinEffect": { "hgvs": "XP_011514970.1:p.Val348Leu", "hgvsWellDefined": "XP_011514970.1:p.Val348Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS083868" }, { "coordinates": [ { "allele": "C", "end": 1297, "referenceAllele": "G", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516669.1:c.892G>C" ], "proteinEffect": { "hgvs": "XP_011514971.1:p.Val298Leu", "hgvsWellDefined": "XP_011514971.1:p.Val298Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS083869" }, { "@id": "http://reg.genome.network/allele/PA916029003", "coordinates": [ { "allele": "C", "end": 1384, "referenceAllele": "G", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346713.1:c.1273G>C" ], "proteinEffect": { "hgvs": "NP_001333642.1:p.Val425Leu", "hgvsWellDefined": "NP_001333642.1:p.Val425Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS517651" }, { "@id": "http://reg.genome.network/allele/PA2827382699", "coordinates": [ { "allele": "C", "end": 1357, "referenceAllele": "G", "start": 1356 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346715.1:c.1246G>C" ], "proteinEffect": { "hgvs": "NP_001333644.1:p.Val416Leu", "hgvsWellDefined": "NP_001333644.1:p.Val416Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS517653" }, { "@id": "http://reg.genome.network/allele/PA2827383097", "coordinates": [ { "allele": "C", "end": 1249, "referenceAllele": "G", "start": 1248 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346717.1:c.1138G>C" ], "proteinEffect": { "hgvs": "NP_001333646.1:p.Val380Leu", "hgvsWellDefined": "NP_001333646.1:p.Val380Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS517655" }, { "@id": "http://reg.genome.network/allele/PA2827383447", "coordinates": [ { "allele": "C", "end": 1446, "referenceAllele": "G", "start": 1445 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346719.1:c.1078G>C" ], "proteinEffect": { "hgvs": "NP_001333648.1:p.Val360Leu", "hgvsWellDefined": "NP_001333648.1:p.Val360Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS517656" }, { "@id": "http://reg.genome.network/allele/PA2827383754", "coordinates": [ { "allele": "C", "end": 1338, "referenceAllele": "G", "start": 1337 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346720.1:c.892G>C" ], "proteinEffect": { "hgvs": "NP_001333649.1:p.Val298Leu", "hgvsWellDefined": "NP_001333649.1:p.Val298Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS517657" }, { "@id": "http://reg.genome.network/allele/PA2828066364", "coordinates": [ { "allele": "C", "end": 1425, "referenceAllele": "G", "start": 1424 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362807.1:c.1051G>C" ], "proteinEffect": { "hgvs": "NP_001349736.1:p.Val351Leu", "hgvsWellDefined": "NP_001349736.1:p.Val351Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS523075" }, { "@id": "http://reg.genome.network/allele/PA2828066622", "coordinates": [ { "allele": "C", "end": 1311, "referenceAllele": "G", "start": 1310 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362808.1:c.865G>C" ], "proteinEffect": { "hgvs": "NP_001349737.1:p.Val289Leu", "hgvsWellDefined": "NP_001349737.1:p.Val289Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS523076" }, { "@id": "http://reg.genome.network/allele/PA2828066957", "coordinates": [ { "allele": "C", "end": 1126, "referenceAllele": "G", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362809.1:c.1015G>C" ], "proteinEffect": { "hgvs": "NP_001349738.1:p.Val339Leu", "hgvsWellDefined": "NP_001349738.1:p.Val339Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS523077" }, { "coordinates": [ { "allele": "G", "end": 2192, "endIntronDirection": "-", "endIntronOffset": 32452, "referenceAllele": "C", "start": 2192, "startIntronDirection": "-", "startIntronOffset": 32453 } ], "gene": "http://reg.genome.network/gene/GN016014", "geneNCBI_id": 64921, "geneSymbol": "CASD1", "hgvs": [ "XM_011516495.2:c.2128-32453C>G" ], "proteinEffect": { "hgvs": "XP_011514797.1:n.2128-32453C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS544191" }, { "coordinates": [ { "allele": "C", "end": 1359, "referenceAllele": "G", "start": 1358 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516663.2:c.1273G>C" ], "proteinEffect": { "hgvs": "XP_011514965.1:p.Val425Leu", "hgvsWellDefined": "XP_011514965.1:p.Val425Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS544255" }, { "coordinates": [ { "allele": "C", "end": 1332, "referenceAllele": "G", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516664.2:c.1246G>C" ], "proteinEffect": { "hgvs": "XP_011514966.1:p.Val416Leu", "hgvsWellDefined": "XP_011514966.1:p.Val416Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS544256" }, { "coordinates": [ { "allele": "C", "end": 1272, "referenceAllele": "G", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516665.3:c.1165G>C" ], "proteinEffect": { "hgvs": "XP_011514967.1:p.Val389Leu", "hgvsWellDefined": "XP_011514967.1:p.Val389Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS544257" }, { "coordinates": [ { "allele": "C", "end": 1245, "referenceAllele": "G", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516666.3:c.1138G>C" ], "proteinEffect": { "hgvs": "XP_011514968.1:p.Val380Leu", "hgvsWellDefined": "XP_011514968.1:p.Val380Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS544258" }, { "coordinates": [ { "allele": "C", "end": 1391, "referenceAllele": "G", "start": 1390 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516667.2:c.1078G>C" ], "proteinEffect": { "hgvs": "XP_011514969.1:p.Val360Leu", "hgvsWellDefined": "XP_011514969.1:p.Val360Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS544259" }, { "coordinates": [ { "allele": "C", "end": 1296, "referenceAllele": "G", "start": 1295 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516669.3:c.892G>C" ], "proteinEffect": { "hgvs": "XP_011514971.1:p.Val298Leu", "hgvsWellDefined": "XP_011514971.1:p.Val298Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS544260" }, { "coordinates": [ { "allele": "C", "end": 1227, "referenceAllele": "G", "start": 1226 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_017012763.1:c.1078G>C" ], "proteinEffect": { "hgvs": "XP_016868252.1:p.Val360Leu", "hgvsWellDefined": "XP_016868252.1:p.Val360Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS566278" }, { "coordinates": [ { "allele": "C", "end": 1283, "referenceAllele": "G", "start": 1282 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_017012767.1:c.865G>C" ], "proteinEffect": { "hgvs": "XP_016868256.1:p.Val289Leu", "hgvsWellDefined": "XP_016868256.1:p.Val289Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS566279" }, { "coordinates": [ { "allele": "C", "end": 1105, "referenceAllele": "G", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_024446985.1:c.1042G>C" ], "proteinEffect": { "hgvs": "XP_024302753.1:p.Val348Leu", "hgvsWellDefined": "XP_024302753.1:p.Val348Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS580613" }, { "coordinates": [ { "allele": "C", "end": 1083, "referenceAllele": "G", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_024446986.1:c.1015G>C" ], "proteinEffect": { "hgvs": "XP_024302754.1:p.Val339Leu", "hgvsWellDefined": "XP_024302754.1:p.Val339Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS580614" }, { "@id": "http://reg.genome.network/allele/PA2825536537", "coordinates": [ { "allele": "C", "end": 1173, "referenceAllele": "G", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099400.2:c.1138G>C" ], "proteinEffect": { "hgvs": "NP_001092870.1:p.Val380Leu", "hgvsWellDefined": "NP_001092870.1:p.Val380Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS676500" }, { "@id": "http://reg.genome.network/allele/PA2825536925", "coordinates": [ { "allele": "C", "end": 1200, "referenceAllele": "G", "start": 1199 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099401.2:c.1165G>C" ], "proteinEffect": { "hgvs": "NP_001092871.1:p.Val389Leu", "hgvsWellDefined": "NP_001092871.1:p.Val389Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS676501" }, { "@id": "http://reg.genome.network/allele/PA2826865205", "coordinates": [ { "allele": "C", "end": 1077, "referenceAllele": "G", "start": 1076 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001301139.2:c.1042G>C" ], "proteinEffect": { "hgvs": "NP_001288068.1:p.Val348Leu", "hgvsWellDefined": "NP_001288068.1:p.Val348Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS683363" }, { "@id": "http://reg.genome.network/allele/PA916029003", "coordinates": [ { "allele": "C", "end": 1308, "referenceAllele": "G", "start": 1307 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346713.2:c.1273G>C" ], "proteinEffect": { "hgvs": "NP_001333642.1:p.Val425Leu", "hgvsWellDefined": "NP_001333642.1:p.Val425Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS687417" }, { "@id": "http://reg.genome.network/allele/PA2827382699", "coordinates": [ { "allele": "C", "end": 1281, "referenceAllele": "G", "start": 1280 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346715.2:c.1246G>C" ], "proteinEffect": { "hgvs": "NP_001333644.1:p.Val416Leu", "hgvsWellDefined": "NP_001333644.1:p.Val416Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS687418" }, { "@id": "http://reg.genome.network/allele/PA2827383097", "coordinates": [ { "allele": "C", "end": 1173, "referenceAllele": "G", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346717.2:c.1138G>C" ], "proteinEffect": { "hgvs": "NP_001333646.1:p.Val380Leu", "hgvsWellDefined": "NP_001333646.1:p.Val380Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS687419" }, { "@id": "http://reg.genome.network/allele/PA2827383447", "coordinates": [ { "allele": "C", "end": 1370, "referenceAllele": "G", "start": 1369 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346719.2:c.1078G>C" ], "proteinEffect": { "hgvs": "NP_001333648.1:p.Val360Leu", "hgvsWellDefined": "NP_001333648.1:p.Val360Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS687420" }, { "@id": "http://reg.genome.network/allele/PA2827383754", "coordinates": [ { "allele": "C", "end": 1262, "referenceAllele": "G", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346720.2:c.892G>C" ], "proteinEffect": { "hgvs": "NP_001333649.1:p.Val298Leu", "hgvsWellDefined": "NP_001333649.1:p.Val298Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS687421" }, { "@id": "http://reg.genome.network/allele/PA2828066364", "coordinates": [ { "allele": "C", "end": 1349, "referenceAllele": "G", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362807.2:c.1051G>C" ], "proteinEffect": { "hgvs": "NP_001349736.1:p.Val351Leu", "hgvsWellDefined": "NP_001349736.1:p.Val351Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690548" }, { "@id": "http://reg.genome.network/allele/PA2828066622", "coordinates": [ { "allele": "C", "end": 1235, "referenceAllele": "G", "start": 1234 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362808.2:c.865G>C" ], "proteinEffect": { "hgvs": "NP_001349737.1:p.Val289Leu", "hgvsWellDefined": "NP_001349737.1:p.Val289Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690549" }, { "@id": "http://reg.genome.network/allele/PA2828066957", "coordinates": [ { "allele": "C", "end": 1050, "referenceAllele": "G", "start": 1049 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362809.2:c.1015G>C" ], "proteinEffect": { "hgvs": "NP_001349738.1:p.Val339Leu", "hgvsWellDefined": "NP_001349738.1:p.Val339Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690550" }, { "@id": "http://reg.genome.network/allele/PA2829454201", "coordinates": [ { "allele": "C", "end": 1200, "referenceAllele": "G", "start": 1199 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_003919.3:c.1165G>C" ], "proteinEffect": { "hgvs": "NP_003910.1:p.Val389Leu", "hgvsWellDefined": "NP_003910.1:p.Val389Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS695983", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648936.2:c.1165G>C" }, "RefSeq": { "hgvs": "NM_003919.3:c.1165G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497130.1:p.Val389Leu" }, "RefSeq": { "hgvs": "NP_003910.1:p.Val389Leu" } } } } ], "type": "nucleotide" }