Linked Data
ClinVar Variation Id:
464151
ClinVar RCV Id:
RCV000525598
dbSNP Id:
rs965437968
gnomAD v2:
7-94228278-A-G
gnomAD v3:
7-94598966-A-G
gnomAD v4:
7-94598966-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94598966A>G , CM000669.2:g.94598966A>G | GRCh38 |
| NC_000007.13:g.94228278A>G , CM000669.1:g.94228278A>G | GRCh37 |
| NC_000007.12:g.94066214A>G | NCBI36 |
| NG_008893.1:g.62244T>C | |
| NG_008893.2:g.62244T>C | |
| NG_008893.3:g.62607T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415788.3:c.1173-3T>C (SGCE) | ENSP00000405313.2:n.1173-3T>C | |
| ENST00000428696.7:c.1017-3T>C (SGCE) | ENSP00000397536.3:n.1017-3T>C | |
| ENST00000437425.7:c.942-3T>C (SGCE) | ENSP00000394061.2:n.942-3T>C | |
| ENST00000445866.7:c.1065-3T>C (SGCE) | ENSP00000398930.2:n.1065-3T>C | |
| ENST00000447873.6:c.1038-3T>C (SGCE) | ENSP00000388734.1:n.1038-3T>C | |
| ENST00000642169.1:c.*447-3T>C (SGCE) | ENSP00000496346.1:n.*447-3T>C | |
| ENST00000642291.1:c.1000-3T>C (SGCE) | ||
| ENST00000642353.1:n.1036-3T>C (SGCE) | ||
| ENST00000642394.1:c.915-3T>C (SGCE) | ENSP00000493751.1:n.915-3T>C | |
| ENST00000642441.1:c.1119-3T>C (SGCE) | ENSP00000495994.1:n.1119-3T>C | |
| ENST00000642497.1:n.1811-3T>C (SGCE) | ||
| ENST00000642564.1:n.1165-3T>C (SGCE) | ||
| ENST00000642638.1:c.*1103-3T>C (SGCE) | ENSP00000495555.1:n.*1103-3T>C | |
| ENST00000642707.1:c.1146-3T>C (SGCE) | ENSP00000495270.1:n.1146-3T>C | |
| ENST00000642754.1:n.5937-3T>C (SGCE) | ||
| ENST00000642759.1:n.1127-3T>C (SGCE) | ||
| ENST00000642802.1:n.860-3T>C (SGCE) | ||
| ENST00000642904.1:n.1126-3T>C (SGCE) | ||
| ENST00000642933.1:c.1038-3T>C (SGCE) | ENSP00000496237.1:n.1038-3T>C | |
| ENST00000643020.1:c.991-3T>C (SGCE) | ||
| ENST00000643041.1:c.*26-3T>C (SGCE) | ENSP00000495311.1:n.*26-3T>C | |
| ENST00000643128.1:c.1065-3T>C (SGCE) | ENSP00000496678.1:n.1065-3T>C | |
| ENST00000643160.1:c.296-3T>C (SGCE) | ||
| ENST00000643193.1:c.1038-3T>C (SGCE) | ENSP00000496559.1:n.1038-3T>C | |
| ENST00000643206.1:c.*646-3T>C (SGCE) | ENSP00000496172.1:n.*646-3T>C | |
| ENST00000643272.1:c.1146-3T>C (SGCE) | ENSP00000494488.1:n.1146-3T>C | |
| ENST00000643324.1:n.1956-3T>C (SGCE) | ||
| ENST00000643491.1:n.966-3T>C (SGCE) | ||
| ENST00000643568.1:c.719-3T>C (SGCE) | ||
| ENST00000643605.1:c.*1025-3T>C (SGCE) | ENSP00000496480.1:n.*1025-3T>C | |
| ENST00000643610.1:c.1065-3T>C (SGCE) | ENSP00000494350.1:n.1065-3T>C | |
| ENST00000643714.1:n.1106-3T>C (SGCE) | ||
| ENST00000643903.1:c.1038-3T>C (SGCE) | ENSP00000495165.1:n.1038-3T>C | |
| ENST00000643991.1:c.947-3T>C (SGCE) | ||
| ENST00000644087.1:c.*1115-3T>C (SGCE) | ENSP00000495249.1:n.*1115-3T>C | |
| ENST00000644116.1:c.1038-3T>C (SGCE) | ENSP00000495276.1:n.1038-3T>C | |
| ENST00000644122.1:c.1146-3T>C (SGCE) | ENSP00000495236.1:n.1146-3T>C | |
| ENST00000644268.1:n.1658-3T>C (SGCE) | ||
| ENST00000644373.1:n.2074-3T>C (SGCE) | ||
| ENST00000644375.1:c.1104-3T>C (SGCE) | ENSP00000494315.1:n.1104-3T>C | |
| ENST00000644533.1:n.1820-3T>C (SGCE) | ||
| ENST00000644551.1:c.1146-3T>C (SGCE) | ENSP00000493981.1:n.1146-3T>C | |
| ENST00000644609.1:c.1038-3T>C (SGCE) | ENSP00000496045.1:n.1038-3T>C | |
| ENST00000644639.1:c.*699-3T>C (SGCE) | ENSP00000496391.1:n.*699-3T>C | |
| ENST00000644658.1:c.417-3T>C (SGCE) | ||
| ENST00000644674.1:n.966-3T>C (SGCE) | ||
| ENST00000644681.1:c.765-3T>C (SGCE) | ENSP00000496455.1:n.765-3T>C | |
| ENST00000644682.1:c.1102-3T>C (SGCE) | ||
| ENST00000644816.1:c.1065-3T>C (SGCE) | ENSP00000494898.1:n.1065-3T>C | |
| ENST00000645101.1:c.1227-3T>C (SGCE) | ENSP00000494975.1:n.1227-3T>C | |
| ENST00000645109.1:c.1173-3T>C (SGCE) | ENSP00000495931.1:n.1173-3T>C | |
| ENST00000645262.1:c.915-3T>C (SGCE) | ENSP00000494164.1:n.915-3T>C | |
| ENST00000645445.1:c.1012-3T>C (SGCE) | ||
| ENST00000645535.1:c.765-3T>C (SGCE) | ENSP00000493984.1:n.765-3T>C | |
| ENST00000645579.1:n.1958-3T>C (SGCE) | ||
| ENST00000645624.1:n.601-3T>C (SGCE) | ||
| ENST00000645665.1:n.284-3T>C (SGCE) | ||
| ENST00000645725.1:c.1119-3T>C (SGCE) | ENSP00000495480.1:n.1119-3T>C | |
| ENST00000645804.1:c.56+731T>C (SGCE) | ENSP00000494688.1:n.56+731T>C | |
| ENST00000646098.1:c.1041-3T>C (SGCE) | ENSP00000495591.1:n.1041-3T>C | |
| ENST00000646119.1:c.1039-3T>C (SGCE) | ||
| ENST00000646137.1:c.1038-3T>C (SGCE) | ENSP00000495199.1:n.1038-3T>C | |
| ENST00000646265.1:c.1127-3T>C (SGCE) | ||
| ENST00000646301.1:c.1011-3T>C (SGCE) | ||
| ENST00000646434.1:c.1287-3T>C (SGCE) | ||
| ENST00000646466.1:c.*968-3T>C (SGCE) | ENSP00000493511.1:n.*968-3T>C | |
| ENST00000646489.1:c.1173-3T>C (SGCE) | ENSP00000496268.1:n.1173-3T>C | |
| ENST00000646559.1:c.*995-3T>C (SGCE) | ENSP00000495838.1:n.*995-3T>C | |
| ENST00000646600.1:c.*968-3T>C (SGCE) | ENSP00000494041.1:n.*968-3T>C | |
| ENST00000646682.1:c.*673-3T>C (SGCE) | ENSP00000496461.1:n.*673-3T>C | |
| ENST00000646879.1:c.1038-3T>C (SGCE) | ENSP00000495209.1:n.1038-3T>C | |
| ENST00000646910.1:n.1098-3T>C (SGCE) | ||
| ENST00000646943.1:c.1065-3T>C (SGCE) | ENSP00000494666.1:n.1065-3T>C | |
| ENST00000647018.1:c.1173-3T>C (SGCE) | ENSP00000493722.1:n.1173-3T>C | |
| ENST00000647031.1:n.3652-3T>C (SGCE) | ||
| ENST00000647048.1:c.862-3T>C (SGCE) | ||
| ENST00000647096.1:c.1173-3T>C (SGCE) | ENSP00000494192.1:n.1173-3T>C | |
| ENST00000647110.1:c.1044-3T>C (SGCE) | ENSP00000494738.1:n.1044-3T>C | |
| ENST00000647334.1:c.1144-3T>C (SGCE) | ||
| ENST00000647351.1:c.1146-3T>C (SGCE) | ENSP00000494556.1:n.1146-3T>C | |
| ENST00000647379.1:n.278-3T>C (SGCE) | ||
| ENST00000647533.1:n.2686-3T>C (SGCE) | ||
| ENST00000648936.2:c.1065-3T>C (SGCE) MANE Select | ENSP00000497130.1:n.1065-3T>C | |
| ENST00000265735.11:c.1065-3T>C (SGCE) | ENSP00000265735.6:n.1065-3T>C | |
| ENST00000415788.2:c.1173-3T>C (SGCE) | ENSP00000405313.2:n.1173-3T>C | |
| ENST00000428696.6:c.1038-3T>C (SGCE) | ENSP00000397536.2:n.1038-3T>C | |
| ENST00000437425.6:c.942-3T>C (SGCE) | ENSP00000394061.2:n.942-3T>C | |
| ENST00000445866.6:c.1065-3T>C (SGCE) | ENSP00000398930.2:n.1065-3T>C | |
| ENST00000447873.5:c.1038-3T>C (SGCE) | ENSP00000388734.1:n.1038-3T>C | |
| ENST00000472326.2:n.172T>C (SGCE) | ||
| ENST00000522045.5:c.122+731T>C (SGCE) | ENSP00000431080.1:n.122+731T>C | |
| NM_001099400.1:c.1038-3T>C (SGCE) | NP_001092870.1:n.1038-3T>C | |
| NM_001099401.1:c.1065-3T>C (SGCE) | NP_001092871.1:n.1065-3T>C | |
| NM_001301139.1:c.942-3T>C (SGCE) | NP_001288068.1:n.942-3T>C | |
| NM_003919.2:c.1065-3T>C (SGCE) | NP_003910.1:n.1065-3T>C | |
| XM_005250675.3:c.1173-3T>C (SGCE) | XP_005250732.1:n.1173-3T>C | |
| XM_005250677.3:c.1146-3T>C (SGCE) | XP_005250734.1:n.1146-3T>C | |
| XM_011516495.1:c.2128-32350A>G (CASD1) | XP_011514797.1:n.2128-32350A>G | |
| XM_011516663.1:c.1173-3T>C (SGCE) | XP_011514965.1:n.1173-3T>C | |
| XM_011516664.1:c.1146-3T>C (SGCE) | XP_011514966.1:n.1146-3T>C | |
| XM_011516665.1:c.1065-3T>C (SGCE) | XP_011514967.1:n.1065-3T>C | |
| XM_011516666.1:c.1038-3T>C (SGCE) | XP_011514968.1:n.1038-3T>C | |
| XM_011516667.1:c.978-3T>C (SGCE) | XP_011514969.1:n.978-3T>C | |
| XM_011516668.1:c.942-3T>C (SGCE) | XP_011514970.1:n.942-3T>C | |
| XM_011516669.1:c.792-3T>C (SGCE) | XP_011514971.1:n.792-3T>C | |
| NM_001346713.1:c.1173-3T>C (SGCE) | NP_001333642.1:n.1173-3T>C | |
| NM_001346715.1:c.1146-3T>C (SGCE) | NP_001333644.1:n.1146-3T>C | |
| NM_001346717.1:c.1038-3T>C (SGCE) | NP_001333646.1:n.1038-3T>C | |
| NM_001346719.1:c.978-3T>C (SGCE) | NP_001333648.1:n.978-3T>C | |
| NM_001346720.1:c.792-3T>C (SGCE) | NP_001333649.1:n.792-3T>C | |
| NM_001362807.1:c.951-3T>C (SGCE) | NP_001349736.1:n.951-3T>C | |
| NM_001362808.1:c.765-3T>C (SGCE) | NP_001349737.1:n.765-3T>C | |
| NM_001362809.1:c.915-3T>C (SGCE) | NP_001349738.1:n.915-3T>C | |
| XM_011516495.2:c.2128-32350A>G (CASD1) | XP_011514797.1:n.2128-32350A>G | |
| XM_011516663.2:c.1173-3T>C (SGCE) | XP_011514965.1:n.1173-3T>C | |
| XM_011516664.2:c.1146-3T>C (SGCE) | XP_011514966.1:n.1146-3T>C | |
| XM_011516665.3:c.1065-3T>C (SGCE) | XP_011514967.1:n.1065-3T>C | |
| XM_011516666.3:c.1038-3T>C (SGCE) | XP_011514968.1:n.1038-3T>C | |
| XM_011516667.2:c.978-3T>C (SGCE) | XP_011514969.1:n.978-3T>C | |
| XM_011516669.3:c.792-3T>C (SGCE) | XP_011514971.1:n.792-3T>C | |
| XM_017012763.1:c.978-3T>C (SGCE) | XP_016868252.1:n.978-3T>C | |
| XM_017012767.1:c.765-3T>C (SGCE) | XP_016868256.1:n.765-3T>C | |
| XM_024446985.1:c.942-3T>C (SGCE) | XP_024302753.1:n.942-3T>C | |
| XM_024446986.1:c.915-3T>C (SGCE) | XP_024302754.1:n.915-3T>C | |
| NM_001099400.2:c.1038-3T>C (SGCE) | NP_001092870.1:n.1038-3T>C | |
| NM_001099401.2:c.1065-3T>C (SGCE) | NP_001092871.1:n.1065-3T>C | |
| NM_001301139.2:c.942-3T>C (SGCE) | NP_001288068.1:n.942-3T>C | |
| NM_001346713.2:c.1173-3T>C (SGCE) | NP_001333642.1:n.1173-3T>C | |
| NM_001346715.2:c.1146-3T>C (SGCE) | NP_001333644.1:n.1146-3T>C | |
| NM_001346717.2:c.1038-3T>C (SGCE) | NP_001333646.1:n.1038-3T>C | |
| NM_001346719.2:c.978-3T>C (SGCE) | NP_001333648.1:n.978-3T>C | |
| NM_001346720.2:c.792-3T>C (SGCE) | NP_001333649.1:n.792-3T>C | |
| NM_001362807.2:c.951-3T>C (SGCE) | NP_001349736.1:n.951-3T>C | |
| NM_001362808.2:c.765-3T>C (SGCE) | NP_001349737.1:n.765-3T>C | |
| NM_001362809.2:c.915-3T>C (SGCE) | NP_001349738.1:n.915-3T>C | |
| NM_003919.3:c.1065-3T>C (SGCE) MANE Select | NP_003910.1:n.1065-3T>C |