Linked Data
ClinVar Variation Id:
648594
ClinVar RCV Id:
RCV000803351
dbSNP Id:
rs1584521458
gnomAD v4:
7-94598814-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94598814T>C , CM000669.2:g.94598814T>C | GRCh38 |
| NC_000007.13:g.94228126T>C , CM000669.1:g.94228126T>C | GRCh37 |
| NC_000007.12:g.94066062T>C | NCBI36 |
| NG_008893.1:g.62396A>G | |
| NG_008893.2:g.62396A>G | |
| NG_008893.3:g.62759A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415788.3:c.1322A>G (SGCE) | ENSP00000405313.2:p.Asn441Ser | |
| ENST00000428696.7:c.1166A>G (SGCE) | ENSP00000397536.3:p.Asn389Ser | |
| ENST00000437425.7:c.1091A>G (SGCE) | ENSP00000394061.2:p.Asn364Ser | |
| ENST00000445866.7:c.1214A>G (SGCE) | ENSP00000398930.2:p.Asn405Ser | |
| ENST00000447873.6:c.1187A>G (SGCE) | ENSP00000388734.1:p.Asn396Ser | |
| ENST00000642291.1:c.1149A>G (SGCE) | ||
| ENST00000642353.1:n.1185A>G (SGCE) | ||
| ENST00000642394.1:c.1064A>G (SGCE) | ENSP00000493751.1:p.Asn355Ser | |
| ENST00000642441.1:c.1268A>G (SGCE) | ENSP00000495994.1:p.Asn423Ser | |
| ENST00000642497.1:n.1960A>G (SGCE) | ||
| ENST00000642564.1:n.1314A>G (SGCE) | ||
| ENST00000642638.1:c.*1252A>G (SGCE) | ENSP00000495555.1:n.*1252A>G | |
| ENST00000642707.1:c.1295A>G (SGCE) | ENSP00000495270.1:p.Asn432Ser | |
| ENST00000642754.1:n.6086A>G (SGCE) | ||
| ENST00000642759.1:n.1276A>G (SGCE) | ||
| ENST00000642802.1:n.1009A>G (SGCE) | ||
| ENST00000642904.1:n.1275A>G (SGCE) | ||
| ENST00000642933.1:c.1187A>G (SGCE) | ENSP00000496237.1:p.Asn396Ser | |
| ENST00000643020.1:c.1140A>G (SGCE) | ||
| ENST00000643041.1:c.*175A>G (SGCE) | ENSP00000495311.1:n.*175A>G | |
| ENST00000643128.1:c.1214A>G (SGCE) | ENSP00000496678.1:p.Asn405Ser | |
| ENST00000643160.1:c.445A>G (SGCE) | ||
| ENST00000643193.1:c.1187A>G (SGCE) | ENSP00000496559.1:p.Asn396Ser | |
| ENST00000643206.1:c.*795A>G (SGCE) | ENSP00000496172.1:n.*795A>G | |
| ENST00000643272.1:c.1295A>G (SGCE) | ENSP00000494488.1:p.Asn432Ser | |
| ENST00000643324.1:n.2105A>G (SGCE) | ||
| ENST00000643491.1:n.1115A>G (SGCE) | ||
| ENST00000643568.1:c.868A>G (SGCE) | ||
| ENST00000643605.1:c.*1174A>G (SGCE) | ENSP00000496480.1:n.*1174A>G | |
| ENST00000643610.1:c.1214A>G (SGCE) | ENSP00000494350.1:p.Asn405Ser | |
| ENST00000643714.1:n.1255A>G (SGCE) | ||
| ENST00000643903.1:c.1187A>G (SGCE) | ENSP00000495165.1:p.Asn396Ser | |
| ENST00000643991.1:c.1096A>G (SGCE) | ||
| ENST00000644087.1:c.*1264A>G (SGCE) | ENSP00000495249.1:n.*1264A>G | |
| ENST00000644116.1:c.1187A>G (SGCE) | ENSP00000495276.1:p.Asn396Ser | |
| ENST00000644122.1:c.1295A>G (SGCE) | ENSP00000495236.1:p.Asn432Ser | |
| ENST00000644268.1:n.1807A>G (SGCE) | ||
| ENST00000644373.1:n.2223A>G (SGCE) | ||
| ENST00000644375.1:c.1253A>G (SGCE) | ENSP00000494315.1:p.Asn418Ser | |
| ENST00000644533.1:n.1969A>G (SGCE) | ||
| ENST00000644551.1:c.1295A>G (SGCE) | ENSP00000493981.1:p.Asn432Ser | |
| ENST00000644609.1:c.1187A>G (SGCE) | ENSP00000496045.1:p.Asn396Ser | |
| ENST00000644639.1:c.*848A>G (SGCE) | ENSP00000496391.1:n.*848A>G | |
| ENST00000644658.1:c.566A>G (SGCE) | ||
| ENST00000644674.1:n.1115A>G (SGCE) | ||
| ENST00000644681.1:c.914A>G (SGCE) | ENSP00000496455.1:p.Asn305Ser | |
| ENST00000644682.1:c.1251A>G (SGCE) | ||
| ENST00000644816.1:c.1214A>G (SGCE) | ENSP00000494898.1:p.Asn405Ser | |
| ENST00000645101.1:c.1376A>G (SGCE) | ENSP00000494975.1:p.Asn459Ser | |
| ENST00000645109.1:c.1322A>G (SGCE) | ENSP00000495931.1:p.Asn441Ser | |
| ENST00000645262.1:c.1064A>G (SGCE) | ENSP00000494164.1:p.Asn355Ser | |
| ENST00000645445.1:c.1161A>G (SGCE) | ||
| ENST00000645535.1:c.914A>G (SGCE) | ENSP00000493984.1:p.Asn305Ser | |
| ENST00000645579.1:n.2107A>G (SGCE) | ||
| ENST00000645624.1:n.750A>G (SGCE) | ||
| ENST00000645665.1:n.433A>G (SGCE) | ||
| ENST00000645725.1:c.1268A>G (SGCE) | ENSP00000495480.1:p.Asn423Ser | |
| ENST00000645804.1:c.56+883A>G (SGCE) | ENSP00000494688.1:n.56+883A>G | |
| ENST00000646098.1:c.1190A>G (SGCE) | ENSP00000495591.1:p.Asn397Ser | |
| ENST00000646119.1:c.1188A>G (SGCE) | ||
| ENST00000646137.1:c.1187A>G (SGCE) | ENSP00000495199.1:p.Asn396Ser | |
| ENST00000646265.1:c.1276A>G (SGCE) | ||
| ENST00000646301.1:c.1160A>G (SGCE) | ||
| ENST00000646434.1:c.1436A>G (SGCE) | ||
| ENST00000646466.1:c.*1117A>G (SGCE) | ENSP00000493511.1:n.*1117A>G | |
| ENST00000646489.1:c.1322A>G (SGCE) | ENSP00000496268.1:p.Asn441Ser | |
| ENST00000646559.1:c.*1144A>G (SGCE) | ENSP00000495838.1:n.*1144A>G | |
| ENST00000646600.1:c.*1117A>G (SGCE) | ENSP00000494041.1:n.*1117A>G | |
| ENST00000646879.1:c.1187A>G (SGCE) | ENSP00000495209.1:p.Asn396Ser | |
| ENST00000646910.1:n.1247A>G (SGCE) | ||
| ENST00000646943.1:c.1214A>G (SGCE) | ENSP00000494666.1:p.Asn405Ser | |
| ENST00000647018.1:c.1322A>G (SGCE) | ENSP00000493722.1:p.Asn441Ser | |
| ENST00000647031.1:n.3801A>G (SGCE) | ||
| ENST00000647048.1:c.1011A>G (SGCE) | ||
| ENST00000647096.1:c.1322A>G (SGCE) | ENSP00000494192.1:p.Asn441Ser | |
| ENST00000647110.1:c.1193A>G (SGCE) | ENSP00000494738.1:p.Asn398Ser | |
| ENST00000647334.1:c.1293A>G (SGCE) | ||
| ENST00000647351.1:c.1295A>G (SGCE) | ENSP00000494556.1:p.Asn432Ser | |
| ENST00000647379.1:n.427A>G (SGCE) | ||
| ENST00000647533.1:n.2835A>G (SGCE) | ||
| ENST00000648936.2:c.1214A>G (SGCE) MANE Select | ENSP00000497130.1:p.Asn405Ser | |
| ENST00000265735.11:c.1214A>G (SGCE) | ENSP00000265735.6:p.Asn405Ser | |
| ENST00000415788.2:c.1322A>G (SGCE) | ENSP00000405313.2:p.Asn441Ser | |
| ENST00000428696.6:c.1187A>G (SGCE) | ENSP00000397536.2:p.Asn396Ser | |
| ENST00000437425.6:c.1091A>G (SGCE) | ENSP00000394061.2:p.Asn364Ser | |
| ENST00000445866.6:c.1214A>G (SGCE) | ENSP00000398930.2:p.Asn405Ser | |
| ENST00000447873.5:c.1187A>G (SGCE) | ENSP00000388734.1:p.Asn396Ser | |
| ENST00000472326.2:n.324A>G (SGCE) | ||
| ENST00000522045.5:c.122+883A>G (SGCE) | ENSP00000431080.1:n.122+883A>G | |
| NM_001099400.1:c.1187A>G (SGCE) | NP_001092870.1:p.Asn396Ser | |
| NM_001099401.1:c.1214A>G (SGCE) | NP_001092871.1:p.Asn405Ser | |
| NM_001301139.1:c.1091A>G (SGCE) | NP_001288068.1:p.Asn364Ser | |
| NM_003919.2:c.1214A>G (SGCE) | NP_003910.1:p.Asn405Ser | |
| XM_005250675.3:c.1322A>G (SGCE) | XP_005250732.1:p.Asn441Ser | |
| XM_005250677.3:c.1295A>G (SGCE) | XP_005250734.1:p.Asn432Ser | |
| XM_011516495.1:c.2128-32502T>C (CASD1) | XP_011514797.1:n.2128-32502T>C | |
| XM_011516663.1:c.1322A>G (SGCE) | XP_011514965.1:p.Asn441Ser | |
| XM_011516664.1:c.1295A>G (SGCE) | XP_011514966.1:p.Asn432Ser | |
| XM_011516665.1:c.1214A>G (SGCE) | XP_011514967.1:p.Asn405Ser | |
| XM_011516666.1:c.1187A>G (SGCE) | XP_011514968.1:p.Asn396Ser | |
| XM_011516667.1:c.1127A>G (SGCE) | XP_011514969.1:p.Asn376Ser | |
| XM_011516668.1:c.1091A>G (SGCE) | XP_011514970.1:p.Asn364Ser | |
| XM_011516669.1:c.941A>G (SGCE) | XP_011514971.1:p.Asn314Ser | |
| NM_001346713.1:c.1322A>G (SGCE) | NP_001333642.1:p.Asn441Ser | |
| NM_001346715.1:c.1295A>G (SGCE) | NP_001333644.1:p.Asn432Ser | |
| NM_001346717.1:c.1187A>G (SGCE) | NP_001333646.1:p.Asn396Ser | |
| NM_001346719.1:c.1127A>G (SGCE) | NP_001333648.1:p.Asn376Ser | |
| NM_001346720.1:c.941A>G (SGCE) | NP_001333649.1:p.Asn314Ser | |
| NM_001362807.1:c.1100A>G (SGCE) | NP_001349736.1:p.Asn367Ser | |
| NM_001362808.1:c.914A>G (SGCE) | NP_001349737.1:p.Asn305Ser | |
| NM_001362809.1:c.1064A>G (SGCE) | NP_001349738.1:p.Asn355Ser | |
| XM_011516495.2:c.2128-32502T>C (CASD1) | XP_011514797.1:n.2128-32502T>C | |
| XM_011516663.2:c.1322A>G (SGCE) | XP_011514965.1:p.Asn441Ser | |
| XM_011516664.2:c.1295A>G (SGCE) | XP_011514966.1:p.Asn432Ser | |
| XM_011516665.3:c.1214A>G (SGCE) | XP_011514967.1:p.Asn405Ser | |
| XM_011516666.3:c.1187A>G (SGCE) | XP_011514968.1:p.Asn396Ser | |
| XM_011516667.2:c.1127A>G (SGCE) | XP_011514969.1:p.Asn376Ser | |
| XM_011516669.3:c.941A>G (SGCE) | XP_011514971.1:p.Asn314Ser | |
| XM_017012763.1:c.1127A>G (SGCE) | XP_016868252.1:p.Asn376Ser | |
| XM_017012767.1:c.914A>G (SGCE) | XP_016868256.1:p.Asn305Ser | |
| XM_024446985.1:c.1091A>G (SGCE) | XP_024302753.1:p.Asn364Ser | |
| XM_024446986.1:c.1064A>G (SGCE) | XP_024302754.1:p.Asn355Ser | |
| NM_001099400.2:c.1187A>G (SGCE) | NP_001092870.1:p.Asn396Ser | |
| NM_001099401.2:c.1214A>G (SGCE) | NP_001092871.1:p.Asn405Ser | |
| NM_001301139.2:c.1091A>G (SGCE) | NP_001288068.1:p.Asn364Ser | |
| NM_001346713.2:c.1322A>G (SGCE) | NP_001333642.1:p.Asn441Ser | |
| NM_001346715.2:c.1295A>G (SGCE) | NP_001333644.1:p.Asn432Ser | |
| NM_001346717.2:c.1187A>G (SGCE) | NP_001333646.1:p.Asn396Ser | |
| NM_001346719.2:c.1127A>G (SGCE) | NP_001333648.1:p.Asn376Ser | |
| NM_001346720.2:c.941A>G (SGCE) | NP_001333649.1:p.Asn314Ser | |
| NM_001362807.2:c.1100A>G (SGCE) | NP_001349736.1:p.Asn367Ser | |
| NM_001362808.2:c.914A>G (SGCE) | NP_001349737.1:p.Asn305Ser | |
| NM_001362809.2:c.1064A>G (SGCE) | NP_001349738.1:p.Asn355Ser | |
| NM_003919.3:c.1214A>G (SGCE) MANE Select | NP_003910.1:p.Asn405Ser |