ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0001254 (NFE)
Genomes Max Group AF
0.00005841 (NFE)
Exomes Max Group AF
0.00012631 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94598832G>A , CM000669.2:g.94598832G>A | GRCh38 |
| NC_000007.13:g.94228144G>A , CM000669.1:g.94228144G>A | GRCh37 |
| NC_000007.12:g.94066080G>A | NCBI36 |
| NG_008893.1:g.62378C>T | |
| NG_008893.2:g.62378C>T | |
| NG_008893.3:g.62741C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415788.3:c.1304C>T (SGCE) | ENSP00000405313.2:p.Pro435Leu | |
| ENST00000428696.7:c.1148C>T (SGCE) | ENSP00000397536.3:p.Pro383Leu | |
| ENST00000437425.7:c.1073C>T (SGCE) | ENSP00000394061.2:p.Pro358Leu | |
| ENST00000445866.7:c.1196C>T (SGCE) | ENSP00000398930.2:p.Pro399Leu | |
| ENST00000447873.6:c.1169C>T (SGCE) | ENSP00000388734.1:p.Pro390Leu | |
| ENST00000642291.1:c.1131C>T (SGCE) | ||
| ENST00000642353.1:n.1167C>T (SGCE) | ||
| ENST00000642394.1:c.1046C>T (SGCE) | ENSP00000493751.1:p.Pro349Leu | |
| ENST00000642441.1:c.1250C>T (SGCE) | ENSP00000495994.1:p.Pro417Leu | |
| ENST00000642497.1:n.1942C>T (SGCE) | ||
| ENST00000642564.1:n.1296C>T (SGCE) | ||
| ENST00000642638.1:c.*1234C>T (SGCE) | ENSP00000495555.1:n.*1234C>T | |
| ENST00000642707.1:c.1277C>T (SGCE) | ENSP00000495270.1:p.Pro426Leu | |
| ENST00000642754.1:n.6068C>T (SGCE) | ||
| ENST00000642759.1:n.1258C>T (SGCE) | ||
| ENST00000642802.1:n.991C>T (SGCE) | ||
| ENST00000642904.1:n.1257C>T (SGCE) | ||
| ENST00000642933.1:c.1169C>T (SGCE) | ENSP00000496237.1:p.Pro390Leu | |
| ENST00000643020.1:c.1122C>T (SGCE) | ||
| ENST00000643041.1:c.*157C>T (SGCE) | ENSP00000495311.1:n.*157C>T | |
| ENST00000643128.1:c.1196C>T (SGCE) | ENSP00000496678.1:p.Pro399Leu | |
| ENST00000643160.1:c.427C>T (SGCE) | ||
| ENST00000643193.1:c.1169C>T (SGCE) | ENSP00000496559.1:p.Pro390Leu | |
| ENST00000643206.1:c.*777C>T (SGCE) | ENSP00000496172.1:n.*777C>T | |
| ENST00000643272.1:c.1277C>T (SGCE) | ENSP00000494488.1:p.Pro426Leu | |
| ENST00000643324.1:n.2087C>T (SGCE) | ||
| ENST00000643491.1:n.1097C>T (SGCE) | ||
| ENST00000643568.1:c.850C>T (SGCE) | ||
| ENST00000643605.1:c.*1156C>T (SGCE) | ENSP00000496480.1:n.*1156C>T | |
| ENST00000643610.1:c.1196C>T (SGCE) | ENSP00000494350.1:p.Pro399Leu | |
| ENST00000643714.1:n.1237C>T (SGCE) | ||
| ENST00000643903.1:c.1169C>T (SGCE) | ENSP00000495165.1:p.Pro390Leu | |
| ENST00000643991.1:c.1078C>T (SGCE) | ||
| ENST00000644087.1:c.*1246C>T (SGCE) | ENSP00000495249.1:n.*1246C>T | |
| ENST00000644116.1:c.1169C>T (SGCE) | ENSP00000495276.1:p.Pro390Leu | |
| ENST00000644122.1:c.1277C>T (SGCE) | ENSP00000495236.1:p.Pro426Leu | |
| ENST00000644268.1:n.1789C>T (SGCE) | ||
| ENST00000644373.1:n.2205C>T (SGCE) | ||
| ENST00000644375.1:c.1235C>T (SGCE) | ENSP00000494315.1:p.Pro412Leu | |
| ENST00000644533.1:n.1951C>T (SGCE) | ||
| ENST00000644551.1:c.1277C>T (SGCE) | ENSP00000493981.1:p.Pro426Leu | |
| ENST00000644609.1:c.1169C>T (SGCE) | ENSP00000496045.1:p.Pro390Leu | |
| ENST00000644639.1:c.*830C>T (SGCE) | ENSP00000496391.1:n.*830C>T | |
| ENST00000644658.1:c.548C>T (SGCE) | ||
| ENST00000644674.1:n.1097C>T (SGCE) | ||
| ENST00000644681.1:c.896C>T (SGCE) | ENSP00000496455.1:p.Pro299Leu | |
| ENST00000644682.1:c.1233C>T (SGCE) | ||
| ENST00000644816.1:c.1196C>T (SGCE) | ENSP00000494898.1:p.Pro399Leu | |
| ENST00000645101.1:c.1358C>T (SGCE) | ENSP00000494975.1:p.Pro453Leu | |
| ENST00000645109.1:c.1304C>T (SGCE) | ENSP00000495931.1:p.Pro435Leu | |
| ENST00000645262.1:c.1046C>T (SGCE) | ENSP00000494164.1:p.Pro349Leu | |
| ENST00000645445.1:c.1143C>T (SGCE) | ||
| ENST00000645535.1:c.896C>T (SGCE) | ENSP00000493984.1:p.Pro299Leu | |
| ENST00000645579.1:n.2089C>T (SGCE) | ||
| ENST00000645624.1:n.732C>T (SGCE) | ||
| ENST00000645665.1:n.415C>T (SGCE) | ||
| ENST00000645725.1:c.1250C>T (SGCE) | ENSP00000495480.1:p.Pro417Leu | |
| ENST00000645804.1:c.56+865C>T (SGCE) | ENSP00000494688.1:n.56+865C>T | |
| ENST00000646098.1:c.1172C>T (SGCE) | ENSP00000495591.1:p.Pro391Leu | |
| ENST00000646119.1:c.1170C>T (SGCE) | ||
| ENST00000646137.1:c.1169C>T (SGCE) | ENSP00000495199.1:p.Pro390Leu | |
| ENST00000646265.1:c.1258C>T (SGCE) | ||
| ENST00000646301.1:c.1142C>T (SGCE) | ||
| ENST00000646434.1:c.1418C>T (SGCE) | ||
| ENST00000646466.1:c.*1099C>T (SGCE) | ENSP00000493511.1:n.*1099C>T | |
| ENST00000646489.1:c.1304C>T (SGCE) | ENSP00000496268.1:p.Pro435Leu | |
| ENST00000646559.1:c.*1126C>T (SGCE) | ENSP00000495838.1:n.*1126C>T | |
| ENST00000646600.1:c.*1099C>T (SGCE) | ENSP00000494041.1:n.*1099C>T | |
| ENST00000646879.1:c.1169C>T (SGCE) | ENSP00000495209.1:p.Pro390Leu | |
| ENST00000646910.1:n.1229C>T (SGCE) | ||
| ENST00000646943.1:c.1196C>T (SGCE) | ENSP00000494666.1:p.Pro399Leu | |
| ENST00000647018.1:c.1304C>T (SGCE) | ENSP00000493722.1:p.Pro435Leu | |
| ENST00000647031.1:n.3783C>T (SGCE) | ||
| ENST00000647048.1:c.993C>T (SGCE) | ||
| ENST00000647096.1:c.1304C>T (SGCE) | ENSP00000494192.1:p.Pro435Leu | |
| ENST00000647110.1:c.1175C>T (SGCE) | ENSP00000494738.1:p.Pro392Leu | |
| ENST00000647334.1:c.1275C>T (SGCE) | ||
| ENST00000647351.1:c.1277C>T (SGCE) | ENSP00000494556.1:p.Pro426Leu | |
| ENST00000647379.1:n.409C>T (SGCE) | ||
| ENST00000647533.1:n.2817C>T (SGCE) | ||
| ENST00000648936.2:c.1196C>T (SGCE) MANE Select | ENSP00000497130.1:p.Pro399Leu | |
| ENST00000265735.11:c.1196C>T (SGCE) | ENSP00000265735.6:p.Pro399Leu | |
| ENST00000415788.2:c.1304C>T (SGCE) | ENSP00000405313.2:p.Pro435Leu | |
| ENST00000428696.6:c.1169C>T (SGCE) | ENSP00000397536.2:p.Pro390Leu | |
| ENST00000437425.6:c.1073C>T (SGCE) | ENSP00000394061.2:p.Pro358Leu | |
| ENST00000445866.6:c.1196C>T (SGCE) | ENSP00000398930.2:p.Pro399Leu | |
| ENST00000447873.5:c.1169C>T (SGCE) | ENSP00000388734.1:p.Pro390Leu | |
| ENST00000472326.2:n.306C>T (SGCE) | ||
| ENST00000522045.5:c.122+865C>T (SGCE) | ENSP00000431080.1:n.122+865C>T | |
| NM_001099400.1:c.1169C>T (SGCE) | NP_001092870.1:p.Pro390Leu | |
| NM_001099401.1:c.1196C>T (SGCE) | NP_001092871.1:p.Pro399Leu | |
| NM_001301139.1:c.1073C>T (SGCE) | NP_001288068.1:p.Pro358Leu | |
| NM_003919.2:c.1196C>T (SGCE) | NP_003910.1:p.Pro399Leu | |
| XM_005250675.3:c.1304C>T (SGCE) | XP_005250732.1:p.Pro435Leu | |
| XM_005250677.3:c.1277C>T (SGCE) | XP_005250734.1:p.Pro426Leu | |
| XM_011516495.1:c.2128-32484G>A (CASD1) | XP_011514797.1:n.2128-32484G>A | |
| XM_011516663.1:c.1304C>T (SGCE) | XP_011514965.1:p.Pro435Leu | |
| XM_011516664.1:c.1277C>T (SGCE) | XP_011514966.1:p.Pro426Leu | |
| XM_011516665.1:c.1196C>T (SGCE) | XP_011514967.1:p.Pro399Leu | |
| XM_011516666.1:c.1169C>T (SGCE) | XP_011514968.1:p.Pro390Leu | |
| XM_011516667.1:c.1109C>T (SGCE) | XP_011514969.1:p.Pro370Leu | |
| XM_011516668.1:c.1073C>T (SGCE) | XP_011514970.1:p.Pro358Leu | |
| XM_011516669.1:c.923C>T (SGCE) | XP_011514971.1:p.Pro308Leu | |
| NM_001346713.1:c.1304C>T (SGCE) | NP_001333642.1:p.Pro435Leu | |
| NM_001346715.1:c.1277C>T (SGCE) | NP_001333644.1:p.Pro426Leu | |
| NM_001346717.1:c.1169C>T (SGCE) | NP_001333646.1:p.Pro390Leu | |
| NM_001346719.1:c.1109C>T (SGCE) | NP_001333648.1:p.Pro370Leu | |
| NM_001346720.1:c.923C>T (SGCE) | NP_001333649.1:p.Pro308Leu | |
| NM_001362807.1:c.1082C>T (SGCE) | NP_001349736.1:p.Pro361Leu | |
| NM_001362808.1:c.896C>T (SGCE) | NP_001349737.1:p.Pro299Leu | |
| NM_001362809.1:c.1046C>T (SGCE) | NP_001349738.1:p.Pro349Leu | |
| XM_011516495.2:c.2128-32484G>A (CASD1) | XP_011514797.1:n.2128-32484G>A | |
| XM_011516663.2:c.1304C>T (SGCE) | XP_011514965.1:p.Pro435Leu | |
| XM_011516664.2:c.1277C>T (SGCE) | XP_011514966.1:p.Pro426Leu | |
| XM_011516665.3:c.1196C>T (SGCE) | XP_011514967.1:p.Pro399Leu | |
| XM_011516666.3:c.1169C>T (SGCE) | XP_011514968.1:p.Pro390Leu | |
| XM_011516667.2:c.1109C>T (SGCE) | XP_011514969.1:p.Pro370Leu | |
| XM_011516669.3:c.923C>T (SGCE) | XP_011514971.1:p.Pro308Leu | |
| XM_017012763.1:c.1109C>T (SGCE) | XP_016868252.1:p.Pro370Leu | |
| XM_017012767.1:c.896C>T (SGCE) | XP_016868256.1:p.Pro299Leu | |
| XM_024446985.1:c.1073C>T (SGCE) | XP_024302753.1:p.Pro358Leu | |
| XM_024446986.1:c.1046C>T (SGCE) | XP_024302754.1:p.Pro349Leu | |
| NM_001099400.2:c.1169C>T (SGCE) | NP_001092870.1:p.Pro390Leu | |
| NM_001099401.2:c.1196C>T (SGCE) | NP_001092871.1:p.Pro399Leu | |
| NM_001301139.2:c.1073C>T (SGCE) | NP_001288068.1:p.Pro358Leu | |
| NM_001346713.2:c.1304C>T (SGCE) | NP_001333642.1:p.Pro435Leu | |
| NM_001346715.2:c.1277C>T (SGCE) | NP_001333644.1:p.Pro426Leu | |
| NM_001346717.2:c.1169C>T (SGCE) | NP_001333646.1:p.Pro390Leu | |
| NM_001346719.2:c.1109C>T (SGCE) | NP_001333648.1:p.Pro370Leu | |
| NM_001346720.2:c.923C>T (SGCE) | NP_001333649.1:p.Pro308Leu | |
| NM_001362807.2:c.1082C>T (SGCE) | NP_001349736.1:p.Pro361Leu | |
| NM_001362808.2:c.896C>T (SGCE) | NP_001349737.1:p.Pro299Leu | |
| NM_001362809.2:c.1046C>T (SGCE) | NP_001349738.1:p.Pro349Leu | |
| NM_003919.3:c.1196C>T (SGCE) MANE Select | NP_003910.1:p.Pro399Leu |