Linked Data
ClinVar Variation Id:
373239
dbSNP Id:
rs778866625
ExAC:
7:94214815 G / A
gnomAD v2:
7-94214815-G-A
gnomAD v3:
7-94585503-G-A
gnomAD v4:
7-94585503-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94585503G>A , CM000669.2:g.94585503G>A | GRCh38 |
| NC_000007.13:g.94214815G>A , CM000669.1:g.94214815G>A | GRCh37 |
| NC_000007.12:g.94052751G>A | NCBI36 |
| NG_008893.1:g.75707C>T | |
| NG_008893.2:g.75707C>T | |
| NG_008893.3:g.76070C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428696.7:c.1297C>T (SGCE) | ENSP00000397536.3:p.Pro433Ser | |
| ENST00000437425.7:c.1187C>T (SGCE) | ENSP00000394061.2:p.Pro396Leu | |
| ENST00000445866.7:c.1385C>T (SGCE) | ENSP00000398930.2:p.Pro462Leu | |
| ENST00000447873.6:c.1283C>T (SGCE) | ENSP00000388734.1:p.Pro428Leu | |
| ENST00000642291.1:c.1245C>T (SGCE) | ||
| ENST00000642353.1:n.1572C>T (SGCE) | ||
| ENST00000642394.1:c.1160C>T (SGCE) | ENSP00000493751.1:p.Pro387Leu | |
| ENST00000642441.1:c.1399C>T (SGCE) | ENSP00000495994.1:p.Pro467Ser | |
| ENST00000642497.1:n.2091C>T (SGCE) | ||
| ENST00000642638.1:c.*1348C>T (SGCE) | ENSP00000495555.1:n.*1348C>T | |
| ENST00000642707.1:c.1466C>T (SGCE) | ENSP00000495270.1:p.Pro489Leu | |
| ENST00000642754.1:n.6138C>T (SGCE) | ||
| ENST00000642759.1:n.1628C>T (SGCE) | ||
| ENST00000642802.1:n.1140C>T (SGCE) | ||
| ENST00000642904.1:n.1662C>T (SGCE) | ||
| ENST00000642933.1:c.1318C>T (SGCE) | ENSP00000496237.1:p.Pro440Ser | |
| ENST00000643041.1:c.*306C>T (SGCE) | ENSP00000495311.1:n.*306C>T | |
| ENST00000643160.1:c.648C>T (SGCE) | ||
| ENST00000643206.1:c.*891C>T (SGCE) | ENSP00000496172.1:n.*891C>T | |
| ENST00000643272.1:c.1391C>T (SGCE) | ENSP00000494488.1:p.Pro464Leu | |
| ENST00000643324.1:n.2201C>T (SGCE) | ||
| ENST00000643491.1:n.2122C>T (SGCE) | ||
| ENST00000643568.1:c.1114C>T (SGCE) | ||
| ENST00000643605.1:c.*1270C>T (SGCE) | ENSP00000496480.1:n.*1270C>T | |
| ENST00000643610.1:c.*111C>T (SGCE) | ENSP00000494350.1:n.*111C>T | |
| ENST00000643714.1:n.2262C>T (SGCE) | ||
| ENST00000643991.1:c.1227C>T (SGCE) | ||
| ENST00000644087.1:c.*1395C>T (SGCE) | ENSP00000495249.1:n.*1395C>T | |
| ENST00000644116.1:c.1393C>T (SGCE) | ENSP00000495276.1:p.Pro465Ser | |
| ENST00000644122.1:c.*14C>T (SGCE) | ENSP00000495236.1:n.*14C>T | |
| ENST00000644268.1:n.1938C>T (SGCE) | ||
| ENST00000644373.1:n.2319C>T (SGCE) | ||
| ENST00000644375.1:c.1384C>T (SGCE) | ENSP00000494315.1:p.Pro462Ser | |
| ENST00000644533.1:n.2100C>T (SGCE) | ||
| ENST00000644551.1:c.1391C>T (SGCE) | ENSP00000493981.1:p.Pro464Leu | |
| ENST00000644609.1:c.1315C>T (SGCE) | ENSP00000496045.1:p.Pro439Ser | |
| ENST00000644639.1:c.*979C>T (SGCE) | ENSP00000496391.1:n.*979C>T | |
| ENST00000644658.1:c.662C>T (SGCE) | ||
| ENST00000644674.1:n.1246C>T (SGCE) | ||
| ENST00000644681.1:c.1045C>T (SGCE) | ENSP00000496455.1:p.Pro349Ser | |
| ENST00000644682.1:c.1347C>T (SGCE) | ||
| ENST00000644816.1:c.1345C>T (SGCE) | ENSP00000494898.1:p.Pro449Ser | |
| ENST00000645101.1:c.1472C>T (SGCE) | ENSP00000494975.1:p.Pro491Leu | |
| ENST00000645262.1:c.1195C>T (SGCE) | ENSP00000494164.1:p.Pro399Ser | |
| ENST00000645445.1:c.1257C>T (SGCE) | ||
| ENST00000645535.1:c.1045C>T (SGCE) | ENSP00000493984.1:p.Pro349Ser | |
| ENST00000645579.1:n.2238C>T (SGCE) | ||
| ENST00000645624.1:n.833+3186C>T (SGCE) | ||
| ENST00000645665.1:n.529C>T (SGCE) | ||
| ENST00000645725.1:c.1364C>T (SGCE) | ENSP00000495480.1:p.Pro455Leu | |
| ENST00000645767.1:n.1381C>T (SGCE) | ||
| ENST00000645804.1:c.113C>T (SGCE) | ENSP00000494688.1:p.Pro38Leu | |
| ENST00000646098.1:c.1286C>T (SGCE) | ENSP00000495591.1:p.Pro429Leu | |
| ENST00000646119.1:c.1356C>T (SGCE) | ||
| ENST00000646137.1:c.*14C>T (SGCE) | ENSP00000495199.1:n.*14C>T | |
| ENST00000646265.1:c.1407C>T (SGCE) | ||
| ENST00000646301.1:c.1256C>T (SGCE) | ||
| ENST00000646434.1:c.1532C>T (SGCE) | ||
| ENST00000646466.1:c.*1323C>T (SGCE) | ENSP00000493511.1:n.*1323C>T | |
| ENST00000646489.1:c.1418C>T (SGCE) | ENSP00000496268.1:p.Pro473Leu | |
| ENST00000646559.1:c.*1240C>T (SGCE) | ENSP00000495838.1:n.*1240C>T | |
| ENST00000646600.1:c.*1248C>T (SGCE) | ENSP00000494041.1:n.*1248C>T | |
| ENST00000646910.1:n.2254C>T (SGCE) | ||
| ENST00000646943.1:c.1420C>T (SGCE) | ENSP00000494666.1:p.Pro474Ser | |
| ENST00000647018.1:c.*9C>T (SGCE) | ENSP00000493722.1:n.*9C>T | |
| ENST00000647031.1:n.3853C>T (SGCE) | ||
| ENST00000647048.1:c.1179C>T (SGCE) | ||
| ENST00000647096.1:c.1499C>T (SGCE) | ENSP00000494192.1:p.Pro500Leu | |
| ENST00000647110.1:c.1324C>T (SGCE) | ENSP00000494738.1:p.Pro442Ser | |
| ENST00000647334.1:c.1461C>T (SGCE) | ||
| ENST00000647351.1:c.1426C>T (SGCE) | ENSP00000494556.1:p.Pro476Ser | |
| ENST00000647533.1:n.2966C>T (SGCE) | ||
| ENST00000648936.2:c.1310C>T (SGCE) MANE Select | ENSP00000497130.1:p.Pro437Leu | |
| ENST00000265735.11:c.1310C>T (SGCE) | ENSP00000265735.6:p.Pro437Leu | |
| ENST00000428696.6:c.1318C>T (SGCE) | ENSP00000397536.2:p.Pro440Ser | |
| ENST00000437425.6:c.1187C>T (SGCE) | ENSP00000394061.2:p.Pro396Leu | |
| ENST00000445866.6:c.1385C>T (SGCE) | ENSP00000398930.2:p.Pro462Leu | |
| ENST00000447873.5:c.1283C>T (SGCE) | ENSP00000388734.1:p.Pro428Leu | |
| ENST00000472326.2:n.420C>T (SGCE) | ||
| ENST00000522045.5:c.135C>T (SGCE) | ENSP00000431080.1:n.135C>T | |
| NM_001099400.1:c.1318C>T (SGCE) | NP_001092870.1:p.Pro440Ser | |
| NM_001099401.1:c.1385C>T (SGCE) | NP_001092871.1:p.Pro462Leu | |
| NM_001301139.1:c.1187C>T (SGCE) | NP_001288068.1:p.Pro396Leu | |
| NM_003919.2:c.1310C>T (SGCE) | NP_003910.1:p.Pro437Leu | |
| XM_005250675.3:c.1418C>T (SGCE) | XP_005250732.1:p.Pro473Leu | |
| XM_005250677.3:c.1391C>T (SGCE) | XP_005250734.1:p.Pro464Leu | |
| XM_011516495.1:c.2127+30928G>A (CASD1) | XP_011514797.1:n.2127+30928G>A | |
| NM_001346713.1:c.1418C>T (SGCE) | NP_001333642.1:p.Pro473Leu | |
| NM_001346715.1:c.1391C>T (SGCE) | NP_001333644.1:p.Pro464Leu | |
| NM_001346717.1:c.1283C>T (SGCE) | NP_001333646.1:p.Pro428Leu | |
| NM_001346719.1:c.1223C>T (SGCE) | NP_001333648.1:p.Pro408Leu | |
| NM_001346720.1:c.1037C>T (SGCE) | NP_001333649.1:p.Pro346Leu | |
| NM_001362807.1:c.1196C>T (SGCE) | NP_001349736.1:p.Pro399Leu | |
| NM_001362808.1:c.1010C>T (SGCE) | NP_001349737.1:p.Pro337Leu | |
| NM_001362809.1:c.1160C>T (SGCE) | NP_001349738.1:p.Pro387Leu | |
| XM_011516495.2:c.2127+30928G>A (CASD1) | XP_011514797.1:n.2127+30928G>A | |
| NM_001099400.2:c.1318C>T (SGCE) | NP_001092870.1:p.Pro440Ser | |
| NM_001099401.2:c.1385C>T (SGCE) | NP_001092871.1:p.Pro462Leu | |
| NM_001301139.2:c.1187C>T (SGCE) | NP_001288068.1:p.Pro396Leu | |
| NM_001346713.2:c.1418C>T (SGCE) | NP_001333642.1:p.Pro473Leu | |
| NM_001346715.2:c.1391C>T (SGCE) | NP_001333644.1:p.Pro464Leu | |
| NM_001346717.2:c.1283C>T (SGCE) | NP_001333646.1:p.Pro428Leu | |
| NM_001346719.2:c.1223C>T (SGCE) | NP_001333648.1:p.Pro408Leu | |
| NM_001346720.2:c.1037C>T (SGCE) | NP_001333649.1:p.Pro346Leu | |
| NM_001362807.2:c.1196C>T (SGCE) | NP_001349736.1:p.Pro399Leu | |
| NM_001362808.2:c.1010C>T (SGCE) | NP_001349737.1:p.Pro337Leu | |
| NM_001362809.2:c.1160C>T (SGCE) | NP_001349738.1:p.Pro387Leu | |
| NM_003919.3:c.1310C>T (SGCE) MANE Select | NP_003910.1:p.Pro437Leu |