Linked Data
ClinVar Variation Id:
5769
dbSNP Id:
rs121908490
gnomAD v3:
7-94628288-G-A
gnomAD v4:
7-94628288-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94628288G>A , CM000669.2:g.94628288G>A | GRCh38 |
| NC_000007.13:g.94257600G>A , CM000669.1:g.94257600G>A | GRCh37 |
| NC_000007.12:g.94095536G>A | NCBI36 |
| NG_008893.1:g.32922C>T | |
| NG_008893.2:g.32922C>T | |
| NG_008893.3:g.33285C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415788.3:c.412C>T (SGCE) | ENSP00000405313.2:p.Arg138Ter | |
| ENST00000425444.2:c.*342C>T (SGCE) | ENSP00000391892.1:n.*342C>T | |
| ENST00000428696.7:c.304C>T (SGCE) | ENSP00000397536.3:p.Arg102Ter | |
| ENST00000437425.7:c.181C>T (SGCE) | ENSP00000394061.2:p.Arg61Ter | |
| ENST00000445866.7:c.304C>T (SGCE) | ENSP00000398930.2:p.Arg102Ter | |
| ENST00000447873.6:c.304C>T (SGCE) | ENSP00000388734.1:p.Arg102Ter | |
| ENST00000450385.6:c.*101C>T (SGCE) | ENSP00000398344.2:n.*101C>T | |
| ENST00000642169.1:c.110-4891C>T (SGCE) | ENSP00000496346.1:n.110-4891C>T | |
| ENST00000642291.1:c.165C>T (SGCE) | ||
| ENST00000642353.1:n.275C>T (SGCE) | ||
| ENST00000642394.1:c.181C>T (SGCE) | ENSP00000493751.1:p.Arg61Ter | |
| ENST00000642441.1:c.304C>T (SGCE) | ENSP00000495994.1:p.Arg102Ter | |
| ENST00000642564.1:n.404C>T (SGCE) | ||
| ENST00000642638.1:c.*342C>T (SGCE) | ENSP00000495555.1:n.*342C>T | |
| ENST00000642707.1:c.412C>T (SGCE) | ENSP00000495270.1:p.Arg138Ter | |
| ENST00000642754.1:n.372C>T (SGCE) | ||
| ENST00000642759.1:n.393C>T (SGCE) | ||
| ENST00000642904.1:n.392C>T (SGCE) | ||
| ENST00000642933.1:c.304C>T (SGCE) | ENSP00000496237.1:p.Arg102Ter | |
| ENST00000643020.1:c.251C>T (SGCE) | ||
| ENST00000643041.1:c.304C>T (SGCE) | ENSP00000495311.1:p.Arg102Ter | |
| ENST00000643128.1:c.304C>T (SGCE) | ENSP00000496678.1:p.Arg102Ter | |
| ENST00000643193.1:c.304C>T (SGCE) | ENSP00000496559.1:p.Arg102Ter | |
| ENST00000643206.1:c.110-4891C>T (SGCE) | ENSP00000496172.1:n.110-4891C>T | |
| ENST00000643272.1:c.412C>T (SGCE) | ENSP00000494488.1:p.Arg138Ter | |
| ENST00000643358.1:n.1608C>T (SGCE) | ||
| ENST00000643368.1:n.166C>T (SGCE) | ||
| ENST00000643605.1:c.*291C>T (SGCE) | ENSP00000496480.1:n.*291C>T | |
| ENST00000643610.1:c.304C>T (SGCE) | ENSP00000494350.1:p.Arg102Ter | |
| ENST00000643714.1:n.372C>T (SGCE) | ||
| ENST00000643903.1:c.304C>T (SGCE) | ENSP00000495165.1:p.Arg102Ter | |
| ENST00000644087.1:c.*234C>T (SGCE) | ENSP00000495249.1:n.*234C>T | |
| ENST00000644116.1:c.304C>T (SGCE) | ENSP00000495276.1:p.Arg102Ter | |
| ENST00000644122.1:c.304C>T (SGCE) | ENSP00000495236.1:p.Arg102Ter | |
| ENST00000644201.1:c.286C>T (SGCE) | ENSP00000495044.1:p.Arg96Ter | |
| ENST00000644375.1:c.304C>T (SGCE) | ENSP00000494315.1:p.Arg102Ter | |
| ENST00000644551.1:c.304C>T (SGCE) | ENSP00000493981.1:p.Arg102Ter | |
| ENST00000644609.1:c.304C>T (SGCE) | ENSP00000496045.1:p.Arg102Ter | |
| ENST00000644639.1:c.304C>T (SGCE) | ENSP00000496391.1:p.Arg102Ter | |
| ENST00000644674.1:n.205C>T (SGCE) | ||
| ENST00000644681.1:c.31C>T (SGCE) | ENSP00000496455.1:p.Arg11Ter | |
| ENST00000644682.1:c.257C>T (SGCE) | ||
| ENST00000644816.1:c.304C>T (SGCE) | ENSP00000494898.1:p.Arg102Ter | |
| ENST00000644924.1:n.173+1431C>T (SGCE) | ||
| ENST00000644966.1:c.25C>T (SGCE) | ENSP00000495105.1:p.Arg9Ter | |
| ENST00000645101.1:c.412C>T (SGCE) | ENSP00000494975.1:p.Arg138Ter | |
| ENST00000645109.1:c.412C>T (SGCE) | ENSP00000495931.1:p.Arg138Ter | |
| ENST00000645262.1:c.181C>T (SGCE) | ENSP00000494164.1:p.Arg61Ter | |
| ENST00000645390.1:n.358C>T (SGCE) | ||
| ENST00000645445.1:c.302C>T (SGCE) | ||
| ENST00000645535.1:c.31C>T (SGCE) | ENSP00000493984.1:p.Arg11Ter | |
| ENST00000645579.1:n.372C>T (SGCE) | ||
| ENST00000645725.1:c.304C>T (SGCE) | ENSP00000495480.1:p.Arg102Ter | |
| ENST00000645920.1:c.*111C>T (SGCE) | ENSP00000494490.1:n.*111C>T | |
| ENST00000646098.1:c.304C>T (SGCE) | ENSP00000495591.1:p.Arg102Ter | |
| ENST00000646119.1:c.278C>T (SGCE) | ||
| ENST00000646137.1:c.304C>T (SGCE) | ENSP00000495199.1:p.Arg102Ter | |
| ENST00000646265.1:c.393C>T (SGCE) | ||
| ENST00000646301.1:c.277C>T (SGCE) | ||
| ENST00000646434.1:c.472C>T (SGCE) | ||
| ENST00000646466.1:c.*234C>T (SGCE) | ENSP00000493511.1:n.*234C>T | |
| ENST00000646489.1:c.412C>T (SGCE) | ENSP00000496268.1:p.Arg138Ter | |
| ENST00000646559.1:c.*234C>T (SGCE) | ENSP00000495838.1:n.*234C>T | |
| ENST00000646600.1:c.*234C>T (SGCE) | ENSP00000494041.1:n.*234C>T | |
| ENST00000646682.1:c.*111C>T (SGCE) | ENSP00000496461.1:n.*111C>T | |
| ENST00000646761.1:n.248C>T (SGCE) | ||
| ENST00000646879.1:c.304C>T (SGCE) | ENSP00000495209.1:p.Arg102Ter | |
| ENST00000646910.1:n.337C>T (SGCE) | ||
| ENST00000646943.1:c.304C>T (SGCE) | ENSP00000494666.1:p.Arg102Ter | |
| ENST00000647018.1:c.412C>T (SGCE) | ENSP00000493722.1:p.Arg138Ter | |
| ENST00000647048.1:c.128C>T (SGCE) | ||
| ENST00000647096.1:c.412C>T (SGCE) | ENSP00000494192.1:p.Arg138Ter | |
| ENST00000647110.1:c.199C>T (SGCE) | ENSP00000494738.1:p.Arg67Ter | |
| ENST00000647334.1:c.410C>T (SGCE) | ||
| ENST00000647351.1:c.304C>T (SGCE) | ENSP00000494556.1:p.Arg102Ter | |
| ENST00000648936.2:c.304C>T (SGCE) MANE Select | ENSP00000497130.1:p.Arg102Ter | |
| ENST00000265735.11:c.304C>T (SGCE) | ENSP00000265735.6:p.Arg102Ter | |
| ENST00000415788.2:c.412C>T (SGCE) | ENSP00000405313.2:p.Arg138Ter | |
| ENST00000425444.1:c.*234C>T (SGCE) | ENSP00000391892.1:n.*234C>T | |
| ENST00000428696.6:c.304C>T (SGCE) | ENSP00000397536.2:p.Arg102Ter | |
| ENST00000437425.6:c.181C>T (SGCE) | ENSP00000394061.2:p.Arg61Ter | |
| ENST00000445866.6:c.304C>T (SGCE) | ENSP00000398930.2:p.Arg102Ter | |
| ENST00000447873.5:c.304C>T (SGCE) | ENSP00000388734.1:p.Arg102Ter | |
| ENST00000450385.5:c.*342C>T (SGCE) | ENSP00000398344.1:n.*342C>T | |
| NM_001099400.1:c.304C>T (SGCE) | NP_001092870.1:p.Arg102Ter | |
| NM_001099401.1:c.304C>T (SGCE) | NP_001092871.1:p.Arg102Ter | |
| NM_001301139.1:c.181C>T (SGCE) | NP_001288068.1:p.Arg61Ter | |
| NM_003919.2:c.304C>T (SGCE) | NP_003910.1:p.Arg102Ter | |
| XM_005250675.3:c.412C>T (SGCE) | XP_005250732.1:p.Arg138Ter | |
| XM_005250677.3:c.412C>T (SGCE) | XP_005250734.1:p.Arg138Ter | |
| XM_011516495.1:c.2128-3028G>A (CASD1) | XP_011514797.1:n.2128-3028G>A | |
| XM_011516663.1:c.412C>T (SGCE) | XP_011514965.1:p.Arg138Ter | |
| XM_011516664.1:c.412C>T (SGCE) | XP_011514966.1:p.Arg138Ter | |
| XM_011516665.1:c.304C>T (SGCE) | XP_011514967.1:p.Arg102Ter | |
| XM_011516666.1:c.304C>T (SGCE) | XP_011514968.1:p.Arg102Ter | |
| XM_011516667.1:c.217C>T (SGCE) | XP_011514969.1:p.Arg73Ter | |
| XM_011516668.1:c.181C>T (SGCE) | XP_011514970.1:p.Arg61Ter | |
| XM_011516669.1:c.31C>T (SGCE) | XP_011514971.1:p.Arg11Ter | |
| NM_001346713.1:c.412C>T (SGCE) | NP_001333642.1:p.Arg138Ter | |
| NM_001346715.1:c.412C>T (SGCE) | NP_001333644.1:p.Arg138Ter | |
| NM_001346717.1:c.304C>T (SGCE) | NP_001333646.1:p.Arg102Ter | |
| NM_001346719.1:c.217C>T (SGCE) | NP_001333648.1:p.Arg73Ter | |
| NM_001346720.1:c.31C>T (SGCE) | NP_001333649.1:p.Arg11Ter | |
| NM_001362807.1:c.217C>T (SGCE) | NP_001349736.1:p.Arg73Ter | |
| NM_001362808.1:c.31C>T (SGCE) | NP_001349737.1:p.Arg11Ter | |
| NM_001362809.1:c.181C>T (SGCE) | NP_001349738.1:p.Arg61Ter | |
| XM_011516495.2:c.2128-3028G>A (CASD1) | XP_011514797.1:n.2128-3028G>A | |
| XM_011516663.2:c.412C>T (SGCE) | XP_011514965.1:p.Arg138Ter | |
| XM_011516664.2:c.412C>T (SGCE) | XP_011514966.1:p.Arg138Ter | |
| XM_011516665.3:c.304C>T (SGCE) | XP_011514967.1:p.Arg102Ter | |
| XM_011516666.3:c.304C>T (SGCE) | XP_011514968.1:p.Arg102Ter | |
| XM_011516667.2:c.217C>T (SGCE) | XP_011514969.1:p.Arg73Ter | |
| XM_011516669.3:c.31C>T (SGCE) | XP_011514971.1:p.Arg11Ter | |
| XM_017012763.1:c.217C>T (SGCE) | XP_016868252.1:p.Arg73Ter | |
| XM_017012767.1:c.31C>T (SGCE) | XP_016868256.1:p.Arg11Ter | |
| XM_024446985.1:c.181C>T (SGCE) | XP_024302753.1:p.Arg61Ter | |
| XM_024446986.1:c.181C>T (SGCE) | XP_024302754.1:p.Arg61Ter | |
| NM_001099400.2:c.304C>T (SGCE) | NP_001092870.1:p.Arg102Ter | |
| NM_001099401.2:c.304C>T (SGCE) | NP_001092871.1:p.Arg102Ter | |
| NM_001301139.2:c.181C>T (SGCE) | NP_001288068.1:p.Arg61Ter | |
| NM_001346713.2:c.412C>T (SGCE) | NP_001333642.1:p.Arg138Ter | |
| NM_001346715.2:c.412C>T (SGCE) | NP_001333644.1:p.Arg138Ter | |
| NM_001346717.2:c.304C>T (SGCE) | NP_001333646.1:p.Arg102Ter | |
| NM_001346719.2:c.217C>T (SGCE) | NP_001333648.1:p.Arg73Ter | |
| NM_001346720.2:c.31C>T (SGCE) | NP_001333649.1:p.Arg11Ter | |
| NM_001362807.2:c.217C>T (SGCE) | NP_001349736.1:p.Arg73Ter | |
| NM_001362808.2:c.31C>T (SGCE) | NP_001349737.1:p.Arg11Ter | |
| NM_001362809.2:c.181C>T (SGCE) | NP_001349738.1:p.Arg61Ter | |
| NM_003919.3:c.304C>T (SGCE) MANE Select | NP_003910.1:p.Arg102Ter |