Linked Data
ClinVar Variation Id:
581767
ClinVar RCV Id:
RCV000705683
dbSNP Id:
rs371568101
gnomAD v2:
7-94218013-G-C
gnomAD v4:
7-94588701-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94588701G>C , CM000669.2:g.94588701G>C | GRCh38 |
| NC_000007.13:g.94218013G>C , CM000669.1:g.94218013G>C | GRCh37 |
| NC_000007.12:g.94055949G>C | NCBI36 |
| NG_008893.1:g.72509C>G | |
| NG_008893.2:g.72509C>G | |
| NG_008893.3:g.72872C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415788.3:c.1393C>G (SGCE) | ENSP00000405313.2:p.Gln465Glu | |
| ENST00000428696.7:c.1237C>G (SGCE) | ENSP00000397536.3:p.Gln413Glu | |
| ENST00000437425.7:c.1162C>G (SGCE) | ENSP00000394061.2:p.Gln388Glu | |
| ENST00000445866.7:c.1360C>G (SGCE) | ENSP00000398930.2:p.Gln454Glu | |
| ENST00000447873.6:c.1258C>G (SGCE) | ENSP00000388734.1:p.Gln420Glu | |
| ENST00000642291.1:c.1220C>G (SGCE) | ||
| ENST00000642353.1:n.1512C>G (SGCE) | ||
| ENST00000642394.1:c.1135C>G (SGCE) | ENSP00000493751.1:p.Gln379Glu | |
| ENST00000642441.1:c.1339C>G (SGCE) | ENSP00000495994.1:p.Gln447Glu | |
| ENST00000642497.1:n.2031C>G (SGCE) | ||
| ENST00000642638.1:c.*1323C>G (SGCE) | ENSP00000495555.1:n.*1323C>G | |
| ENST00000642707.1:c.1441C>G (SGCE) | ENSP00000495270.1:p.Gln481Glu | |
| ENST00000642754.1:n.6126-3186C>G (SGCE) | ||
| ENST00000642759.1:n.1603C>G (SGCE) | ||
| ENST00000642802.1:n.1080C>G (SGCE) | ||
| ENST00000642904.1:n.1602C>G (SGCE) | ||
| ENST00000642933.1:c.1258C>G (SGCE) | ENSP00000496237.1:p.Gln420Glu | |
| ENST00000643041.1:c.*246C>G (SGCE) | ENSP00000495311.1:n.*246C>G | |
| ENST00000643160.1:c.516C>G (SGCE) | ||
| ENST00000643193.1:c.1258C>G (SGCE) | ENSP00000496559.1:p.Gln420Glu | |
| ENST00000643206.1:c.*866C>G (SGCE) | ENSP00000496172.1:n.*866C>G | |
| ENST00000643272.1:c.1366C>G (SGCE) | ENSP00000494488.1:p.Gln456Glu | |
| ENST00000643324.1:n.2176C>G (SGCE) | ||
| ENST00000643491.1:n.1186C>G (SGCE) | ||
| ENST00000643568.1:c.1054C>G (SGCE) | ||
| ENST00000643605.1:c.*1245C>G (SGCE) | ENSP00000496480.1:n.*1245C>G | |
| ENST00000643610.1:c.*86C>G (SGCE) | ENSP00000494350.1:n.*86C>G | |
| ENST00000643714.1:n.1326C>G (SGCE) | ||
| ENST00000643991.1:c.1167C>G (SGCE) | ||
| ENST00000644087.1:c.*1335C>G (SGCE) | ENSP00000495249.1:n.*1335C>G | |
| ENST00000644116.1:c.1333C>G (SGCE) | ENSP00000495276.1:p.Gln445Glu | |
| ENST00000644122.1:c.1366C>G (SGCE) | ENSP00000495236.1:p.Gln456Glu | |
| ENST00000644268.1:n.1878C>G (SGCE) | ||
| ENST00000644373.1:n.2294C>G (SGCE) | ||
| ENST00000644375.1:c.1324C>G (SGCE) | ENSP00000494315.1:p.Gln442Glu | |
| ENST00000644533.1:n.2040C>G (SGCE) | ||
| ENST00000644551.1:c.1366C>G (SGCE) | ENSP00000493981.1:p.Gln456Glu | |
| ENST00000644609.1:c.1258C>G (SGCE) | ENSP00000496045.1:p.Gln420Glu | |
| ENST00000644639.1:c.*919C>G (SGCE) | ENSP00000496391.1:n.*919C>G | |
| ENST00000644658.1:c.637C>G (SGCE) | ||
| ENST00000644674.1:n.1186C>G (SGCE) | ||
| ENST00000644681.1:c.985C>G (SGCE) | ENSP00000496455.1:p.Gln329Glu | |
| ENST00000644682.1:c.1322C>G (SGCE) | ||
| ENST00000644816.1:c.1285C>G (SGCE) | ENSP00000494898.1:p.Gln429Glu | |
| ENST00000645101.1:c.1447C>G (SGCE) | ENSP00000494975.1:p.Gln483Glu | |
| ENST00000645262.1:c.1135C>G (SGCE) | ENSP00000494164.1:p.Gln379Glu | |
| ENST00000645445.1:c.1232C>G (SGCE) | ||
| ENST00000645535.1:c.985C>G (SGCE) | ENSP00000493984.1:p.Gln329Glu | |
| ENST00000645579.1:n.2178C>G (SGCE) | ||
| ENST00000645624.1:n.821C>G (SGCE) | ||
| ENST00000645665.1:n.504C>G (SGCE) | ||
| ENST00000645725.1:c.1339C>G (SGCE) | ENSP00000495480.1:p.Gln447Glu | |
| ENST00000645767.1:n.1321C>G (SGCE) | ||
| ENST00000645804.1:c.88C>G (SGCE) | ENSP00000494688.1:p.Gln30Glu | |
| ENST00000646098.1:c.1261C>G (SGCE) | ENSP00000495591.1:p.Gln421Glu | |
| ENST00000646119.1:c.1259C>G (SGCE) | ||
| ENST00000646137.1:c.1258C>G (SGCE) | ENSP00000495199.1:p.Gln420Glu | |
| ENST00000646265.1:c.1347C>G (SGCE) | ||
| ENST00000646301.1:c.1231C>G (SGCE) | ||
| ENST00000646434.1:c.1507C>G (SGCE) | ||
| ENST00000646466.1:c.*1263C>G (SGCE) | ENSP00000493511.1:n.*1263C>G | |
| ENST00000646489.1:c.1393C>G (SGCE) | ENSP00000496268.1:p.Gln465Glu | |
| ENST00000646559.1:c.*1215C>G (SGCE) | ENSP00000495838.1:n.*1215C>G | |
| ENST00000646600.1:c.*1188C>G (SGCE) | ENSP00000494041.1:n.*1188C>G | |
| ENST00000646879.1:c.1258C>G (SGCE) | ENSP00000495209.1:p.Gln420Glu | |
| ENST00000646910.1:n.1318C>G (SGCE) | ||
| ENST00000646943.1:c.1360C>G (SGCE) | ENSP00000494666.1:p.Gln454Glu | |
| ENST00000647018.1:c.1362-3186C>G (SGCE) | ENSP00000493722.1:n.1362-3186C>G | |
| ENST00000647031.1:n.3841-3186C>G (SGCE) | ||
| ENST00000647048.1:c.1082C>G (SGCE) | ||
| ENST00000647096.1:c.1474C>G (SGCE) | ENSP00000494192.1:p.Gln492Glu | |
| ENST00000647110.1:c.1264C>G (SGCE) | ENSP00000494738.1:p.Gln422Glu | |
| ENST00000647334.1:c.1364C>G (SGCE) | ||
| ENST00000647351.1:c.1366C>G (SGCE) | ENSP00000494556.1:p.Gln456Glu | |
| ENST00000647533.1:n.2906C>G (SGCE) | ||
| ENST00000648936.2:c.1285C>G (SGCE) MANE Select | ENSP00000497130.1:p.Gln429Glu | |
| ENST00000265735.11:c.1285C>G (SGCE) | ENSP00000265735.6:p.Gln429Glu | |
| ENST00000415788.2:c.1393C>G (SGCE) | ENSP00000405313.2:p.Gln465Glu | |
| ENST00000428696.6:c.1258C>G (SGCE) | ENSP00000397536.2:p.Gln420Glu | |
| ENST00000437425.6:c.1162C>G (SGCE) | ENSP00000394061.2:p.Gln388Glu | |
| ENST00000445866.6:c.1360C>G (SGCE) | ENSP00000398930.2:p.Gln454Glu | |
| ENST00000447873.5:c.1258C>G (SGCE) | ENSP00000388734.1:p.Gln420Glu | |
| ENST00000472326.2:n.395C>G (SGCE) | ||
| ENST00000522045.5:c.123-3186C>G (SGCE) | ENSP00000431080.1:n.123-3186C>G | |
| NM_001099400.1:c.1258C>G (SGCE) | NP_001092870.1:p.Gln420Glu | |
| NM_001099401.1:c.1360C>G (SGCE) | NP_001092871.1:p.Gln454Glu | |
| NM_001301139.1:c.1162C>G (SGCE) | NP_001288068.1:p.Gln388Glu | |
| NM_003919.2:c.1285C>G (SGCE) | NP_003910.1:p.Gln429Glu | |
| XM_005250675.3:c.1393C>G (SGCE) | XP_005250732.1:p.Gln465Glu | |
| XM_005250677.3:c.1366C>G (SGCE) | XP_005250734.1:p.Gln456Glu | |
| XM_011516495.1:c.2127+34126G>C (CASD1) | XP_011514797.1:n.2127+34126G>C | |
| XM_011516663.1:c.1393C>G (SGCE) | XP_011514965.1:p.Gln465Glu | |
| XM_011516664.1:c.1366C>G (SGCE) | XP_011514966.1:p.Gln456Glu | |
| XM_011516665.1:c.1285C>G (SGCE) | XP_011514967.1:p.Gln429Glu | |
| XM_011516666.1:c.1258C>G (SGCE) | XP_011514968.1:p.Gln420Glu | |
| XM_011516667.1:c.1198C>G (SGCE) | XP_011514969.1:p.Gln400Glu | |
| XM_011516668.1:c.1162C>G (SGCE) | XP_011514970.1:p.Gln388Glu | |
| XM_011516669.1:c.1012C>G (SGCE) | XP_011514971.1:p.Gln338Glu | |
| NM_001346713.1:c.1393C>G (SGCE) | NP_001333642.1:p.Gln465Glu | |
| NM_001346715.1:c.1366C>G (SGCE) | NP_001333644.1:p.Gln456Glu | |
| NM_001346717.1:c.1258C>G (SGCE) | NP_001333646.1:p.Gln420Glu | |
| NM_001346719.1:c.1198C>G (SGCE) | NP_001333648.1:p.Gln400Glu | |
| NM_001346720.1:c.1012C>G (SGCE) | NP_001333649.1:p.Gln338Glu | |
| NM_001362807.1:c.1171C>G (SGCE) | NP_001349736.1:p.Gln391Glu | |
| NM_001362808.1:c.985C>G (SGCE) | NP_001349737.1:p.Gln329Glu | |
| NM_001362809.1:c.1135C>G (SGCE) | NP_001349738.1:p.Gln379Glu | |
| XM_011516495.2:c.2127+34126G>C (CASD1) | XP_011514797.1:n.2127+34126G>C | |
| XM_011516663.2:c.1393C>G (SGCE) | XP_011514965.1:p.Gln465Glu | |
| XM_011516664.2:c.1366C>G (SGCE) | XP_011514966.1:p.Gln456Glu | |
| XM_011516665.3:c.1285C>G (SGCE) | XP_011514967.1:p.Gln429Glu | |
| XM_011516666.3:c.1258C>G (SGCE) | XP_011514968.1:p.Gln420Glu | |
| XM_011516667.2:c.1198C>G (SGCE) | XP_011514969.1:p.Gln400Glu | |
| XM_011516669.3:c.1012C>G (SGCE) | XP_011514971.1:p.Gln338Glu | |
| XM_017012763.1:c.1198C>G (SGCE) | XP_016868252.1:p.Gln400Glu | |
| XM_017012767.1:c.985C>G (SGCE) | XP_016868256.1:p.Gln329Glu | |
| XM_024446985.1:c.1162C>G (SGCE) | XP_024302753.1:p.Gln388Glu | |
| XM_024446986.1:c.1135C>G (SGCE) | XP_024302754.1:p.Gln379Glu | |
| NM_001099400.2:c.1258C>G (SGCE) | NP_001092870.1:p.Gln420Glu | |
| NM_001099401.2:c.1360C>G (SGCE) | NP_001092871.1:p.Gln454Glu | |
| NM_001301139.2:c.1162C>G (SGCE) | NP_001288068.1:p.Gln388Glu | |
| NM_001346713.2:c.1393C>G (SGCE) | NP_001333642.1:p.Gln465Glu | |
| NM_001346715.2:c.1366C>G (SGCE) | NP_001333644.1:p.Gln456Glu | |
| NM_001346717.2:c.1258C>G (SGCE) | NP_001333646.1:p.Gln420Glu | |
| NM_001346719.2:c.1198C>G (SGCE) | NP_001333648.1:p.Gln400Glu | |
| NM_001346720.2:c.1012C>G (SGCE) | NP_001333649.1:p.Gln338Glu | |
| NM_001362807.2:c.1171C>G (SGCE) | NP_001349736.1:p.Gln391Glu | |
| NM_001362808.2:c.985C>G (SGCE) | NP_001349737.1:p.Gln329Glu | |
| NM_001362809.2:c.1135C>G (SGCE) | NP_001349738.1:p.Gln379Glu | |
| NM_003919.3:c.1285C>G (SGCE) MANE Select | NP_003910.1:p.Gln429Glu |