gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94588677C>A , CM000669.2:g.94588677C>A | GRCh38 |
| NC_000007.13:g.94217989C>A , CM000669.1:g.94217989C>A | GRCh37 |
| NC_000007.12:g.94055925C>A | NCBI36 |
| NG_008893.1:g.72533G>T | |
| NG_008893.2:g.72533G>T | |
| NG_008893.3:g.72896G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415788.3:c.*1G>T (SGCE) | ENSP00000405313.2:n.*1G>T | |
| ENST00000428696.7:c.1249+12G>T (SGCE) | ENSP00000397536.3:n.1249+12G>T | |
| ENST00000437425.7:c.1174+12G>T (SGCE) | ENSP00000394061.2:n.1174+12G>T | |
| ENST00000445866.7:c.1372+12G>T (SGCE) | ENSP00000398930.2:n.1372+12G>T | |
| ENST00000447873.6:c.1270+12G>T (SGCE) | ENSP00000388734.1:n.1270+12G>T | |
| ENST00000642291.1:c.1232+12G>T (SGCE) | ||
| ENST00000642353.1:n.1524+12G>T (SGCE) | ||
| ENST00000642394.1:c.1147+12G>T (SGCE) | ENSP00000493751.1:n.1147+12G>T | |
| ENST00000642441.1:c.1351+12G>T (SGCE) | ENSP00000495994.1:n.1351+12G>T | |
| ENST00000642497.1:n.2043+12G>T (SGCE) | ||
| ENST00000642638.1:c.*1335+12G>T (SGCE) | ENSP00000495555.1:n.*1335+12G>T | |
| ENST00000642707.1:c.1453+12G>T (SGCE) | ENSP00000495270.1:n.1453+12G>T | |
| ENST00000642754.1:n.6126-3162G>T (SGCE) | ||
| ENST00000642759.1:n.1615+12G>T (SGCE) | ||
| ENST00000642802.1:n.1092+12G>T (SGCE) | ||
| ENST00000642904.1:n.1614+12G>T (SGCE) | ||
| ENST00000642933.1:c.1270+12G>T (SGCE) | ENSP00000496237.1:n.1270+12G>T | |
| ENST00000643041.1:c.*258+12G>T (SGCE) | ENSP00000495311.1:n.*258+12G>T | |
| ENST00000643160.1:c.528+12G>T (SGCE) | ||
| ENST00000643193.1:c.1270+12G>T (SGCE) | ENSP00000496559.1:n.1270+12G>T | |
| ENST00000643206.1:c.*878+12G>T (SGCE) | ENSP00000496172.1:n.*878+12G>T | |
| ENST00000643272.1:c.1378+12G>T (SGCE) | ENSP00000494488.1:n.1378+12G>T | |
| ENST00000643324.1:n.2188+12G>T (SGCE) | ||
| ENST00000643491.1:n.1210G>T (SGCE) | ||
| ENST00000643568.1:c.1066+12G>T (SGCE) | ||
| ENST00000643605.1:c.*1257+12G>T (SGCE) | ENSP00000496480.1:n.*1257+12G>T | |
| ENST00000643610.1:c.*98+12G>T (SGCE) | ENSP00000494350.1:n.*98+12G>T | |
| ENST00000643714.1:n.1350G>T (SGCE) | ||
| ENST00000643991.1:c.1179+12G>T (SGCE) | ||
| ENST00000644087.1:c.*1347+12G>T (SGCE) | ENSP00000495249.1:n.*1347+12G>T | |
| ENST00000644116.1:c.1345+12G>T (SGCE) | ENSP00000495276.1:n.1345+12G>T | |
| ENST00000644122.1:c.1378+12G>T (SGCE) | ENSP00000495236.1:n.1378+12G>T | |
| ENST00000644268.1:n.1890+12G>T (SGCE) | ||
| ENST00000644373.1:n.2306+12G>T (SGCE) | ||
| ENST00000644375.1:c.1336+12G>T (SGCE) | ENSP00000494315.1:n.1336+12G>T | |
| ENST00000644533.1:n.2052+12G>T (SGCE) | ||
| ENST00000644551.1:c.1378+12G>T (SGCE) | ENSP00000493981.1:n.1378+12G>T | |
| ENST00000644609.1:c.1270+12G>T (SGCE) | ENSP00000496045.1:n.1270+12G>T | |
| ENST00000644639.1:c.*931+12G>T (SGCE) | ENSP00000496391.1:n.*931+12G>T | |
| ENST00000644658.1:c.649+12G>T (SGCE) | ||
| ENST00000644674.1:n.1198+12G>T (SGCE) | ||
| ENST00000644681.1:c.997+12G>T (SGCE) | ENSP00000496455.1:n.997+12G>T | |
| ENST00000644682.1:c.1334+12G>T (SGCE) | ||
| ENST00000644816.1:c.1297+12G>T (SGCE) | ENSP00000494898.1:n.1297+12G>T | |
| ENST00000645101.1:c.1459+12G>T (SGCE) | ENSP00000494975.1:n.1459+12G>T | |
| ENST00000645262.1:c.1147+12G>T (SGCE) | ENSP00000494164.1:n.1147+12G>T | |
| ENST00000645445.1:c.1244+12G>T (SGCE) | ||
| ENST00000645535.1:c.997+12G>T (SGCE) | ENSP00000493984.1:n.997+12G>T | |
| ENST00000645579.1:n.2190+12G>T (SGCE) | ||
| ENST00000645624.1:n.833+12G>T (SGCE) | ||
| ENST00000645665.1:n.516+12G>T (SGCE) | ||
| ENST00000645725.1:c.1351+12G>T (SGCE) | ENSP00000495480.1:n.1351+12G>T | |
| ENST00000645767.1:n.1333+12G>T (SGCE) | ||
| ENST00000645804.1:c.100+12G>T (SGCE) | ENSP00000494688.1:n.100+12G>T | |
| ENST00000646098.1:c.1273+12G>T (SGCE) | ENSP00000495591.1:n.1273+12G>T | |
| ENST00000646119.1:c.1271+12G>T (SGCE) | ||
| ENST00000646137.1:c.1270+12G>T (SGCE) | ENSP00000495199.1:n.1270+12G>T | |
| ENST00000646265.1:c.1359+12G>T (SGCE) | ||
| ENST00000646301.1:c.1243+12G>T (SGCE) | ||
| ENST00000646434.1:c.1519+12G>T (SGCE) | ||
| ENST00000646466.1:c.*1275+12G>T (SGCE) | ENSP00000493511.1:n.*1275+12G>T | |
| ENST00000646489.1:c.1405+12G>T (SGCE) | ENSP00000496268.1:n.1405+12G>T | |
| ENST00000646559.1:c.*1227+12G>T (SGCE) | ENSP00000495838.1:n.*1227+12G>T | |
| ENST00000646600.1:c.*1200+12G>T (SGCE) | ENSP00000494041.1:n.*1200+12G>T | |
| ENST00000646879.1:c.*1G>T (SGCE) | ENSP00000495209.1:n.*1G>T | |
| ENST00000646910.1:n.1342G>T (SGCE) | ||
| ENST00000646943.1:c.1372+12G>T (SGCE) | ENSP00000494666.1:n.1372+12G>T | |
| ENST00000647018.1:c.1362-3162G>T (SGCE) | ENSP00000493722.1:n.1362-3162G>T | |
| ENST00000647031.1:n.3841-3162G>T (SGCE) | ||
| ENST00000647048.1:c.1094+12G>T (SGCE) | ||
| ENST00000647096.1:c.1486+12G>T (SGCE) | ENSP00000494192.1:n.1486+12G>T | |
| ENST00000647110.1:c.1276+12G>T (SGCE) | ENSP00000494738.1:n.1276+12G>T | |
| ENST00000647334.1:c.1376+12G>T (SGCE) | ||
| ENST00000647351.1:c.1378+12G>T (SGCE) | ENSP00000494556.1:n.1378+12G>T | |
| ENST00000647533.1:n.2918+12G>T (SGCE) | ||
| ENST00000648936.2:c.1297+12G>T (SGCE) MANE Select | ENSP00000497130.1:n.1297+12G>T | |
| ENST00000265735.11:c.1297+12G>T (SGCE) | ENSP00000265735.6:n.1297+12G>T | |
| ENST00000415788.2:c.*1G>T (SGCE) | ENSP00000405313.2:n.*1G>T | |
| ENST00000428696.6:c.1270+12G>T (SGCE) | ENSP00000397536.2:n.1270+12G>T | |
| ENST00000437425.6:c.1174+12G>T (SGCE) | ENSP00000394061.2:n.1174+12G>T | |
| ENST00000445866.6:c.1372+12G>T (SGCE) | ENSP00000398930.2:n.1372+12G>T | |
| ENST00000447873.5:c.1270+12G>T (SGCE) | ENSP00000388734.1:n.1270+12G>T | |
| ENST00000472326.2:n.407+12G>T (SGCE) | ||
| ENST00000522045.5:c.123-3162G>T (SGCE) | ENSP00000431080.1:n.123-3162G>T | |
| NM_001099400.1:c.1270+12G>T (SGCE) | NP_001092870.1:n.1270+12G>T | |
| NM_001099401.1:c.1372+12G>T (SGCE) | NP_001092871.1:n.1372+12G>T | |
| NM_001301139.1:c.1174+12G>T (SGCE) | NP_001288068.1:n.1174+12G>T | |
| NM_003919.2:c.1297+12G>T (SGCE) | NP_003910.1:n.1297+12G>T | |
| XM_005250675.3:c.1405+12G>T (SGCE) | XP_005250732.1:n.1405+12G>T | |
| XM_005250677.3:c.1378+12G>T (SGCE) | XP_005250734.1:n.1378+12G>T | |
| XM_011516495.1:c.2127+34102C>A (CASD1) | XP_011514797.1:n.2127+34102C>A | |
| XM_011516663.1:c.1405+12G>T (SGCE) | XP_011514965.1:n.1405+12G>T | |
| XM_011516664.1:c.1378+12G>T (SGCE) | XP_011514966.1:n.1378+12G>T | |
| XM_011516665.1:c.1297+12G>T (SGCE) | XP_011514967.1:n.1297+12G>T | |
| XM_011516666.1:c.1270+12G>T (SGCE) | XP_011514968.1:n.1270+12G>T | |
| XM_011516667.1:c.1210+12G>T (SGCE) | XP_011514969.1:n.1210+12G>T | |
| XM_011516668.1:c.1174+12G>T (SGCE) | XP_011514970.1:n.1174+12G>T | |
| XM_011516669.1:c.1024+12G>T (SGCE) | XP_011514971.1:n.1024+12G>T | |
| NM_001346713.1:c.1405+12G>T (SGCE) | NP_001333642.1:n.1405+12G>T | |
| NM_001346715.1:c.1378+12G>T (SGCE) | NP_001333644.1:n.1378+12G>T | |
| NM_001346717.1:c.1270+12G>T (SGCE) | NP_001333646.1:n.1270+12G>T | |
| NM_001346719.1:c.1210+12G>T (SGCE) | NP_001333648.1:n.1210+12G>T | |
| NM_001346720.1:c.1024+12G>T (SGCE) | NP_001333649.1:n.1024+12G>T | |
| NM_001362807.1:c.1183+12G>T (SGCE) | NP_001349736.1:n.1183+12G>T | |
| NM_001362808.1:c.997+12G>T (SGCE) | NP_001349737.1:n.997+12G>T | |
| NM_001362809.1:c.1147+12G>T (SGCE) | NP_001349738.1:n.1147+12G>T | |
| XM_011516495.2:c.2127+34102C>A (CASD1) | XP_011514797.1:n.2127+34102C>A | |
| XM_011516663.2:c.1405+12G>T (SGCE) | XP_011514965.1:n.1405+12G>T | |
| XM_011516664.2:c.1378+12G>T (SGCE) | XP_011514966.1:n.1378+12G>T | |
| XM_011516665.3:c.1297+12G>T (SGCE) | XP_011514967.1:n.1297+12G>T | |
| XM_011516666.3:c.1270+12G>T (SGCE) | XP_011514968.1:n.1270+12G>T | |
| XM_011516667.2:c.1210+12G>T (SGCE) | XP_011514969.1:n.1210+12G>T | |
| XM_011516669.3:c.1024+12G>T (SGCE) | XP_011514971.1:n.1024+12G>T | |
| XM_017012763.1:c.1210+12G>T (SGCE) | XP_016868252.1:n.1210+12G>T | |
| XM_017012767.1:c.997+12G>T (SGCE) | XP_016868256.1:n.997+12G>T | |
| XM_024446985.1:c.1174+12G>T (SGCE) | XP_024302753.1:n.1174+12G>T | |
| XM_024446986.1:c.1147+12G>T (SGCE) | XP_024302754.1:n.1147+12G>T | |
| NM_001099400.2:c.1270+12G>T (SGCE) | NP_001092870.1:n.1270+12G>T | |
| NM_001099401.2:c.1372+12G>T (SGCE) | NP_001092871.1:n.1372+12G>T | |
| NM_001301139.2:c.1174+12G>T (SGCE) | NP_001288068.1:n.1174+12G>T | |
| NM_001346713.2:c.1405+12G>T (SGCE) | NP_001333642.1:n.1405+12G>T | |
| NM_001346715.2:c.1378+12G>T (SGCE) | NP_001333644.1:n.1378+12G>T | |
| NM_001346717.2:c.1270+12G>T (SGCE) | NP_001333646.1:n.1270+12G>T | |
| NM_001346719.2:c.1210+12G>T (SGCE) | NP_001333648.1:n.1210+12G>T | |
| NM_001346720.2:c.1024+12G>T (SGCE) | NP_001333649.1:n.1024+12G>T | |
| NM_001362807.2:c.1183+12G>T (SGCE) | NP_001349736.1:n.1183+12G>T | |
| NM_001362808.2:c.997+12G>T (SGCE) | NP_001349737.1:n.997+12G>T | |
| NM_001362809.2:c.1147+12G>T (SGCE) | NP_001349738.1:n.1147+12G>T | |
| NM_003919.3:c.1297+12G>T (SGCE) MANE Select | NP_003910.1:n.1297+12G>T |