Linked Data
ClinVar Variation Id:
532796
ClinVar RCV Id:
RCV000639697
dbSNP Id:
rs368276611
ExAC:
7:94228182 C / T
gnomAD v2:
7-94228182-C-T
gnomAD v3:
7-94598870-C-T
gnomAD v4:
7-94598870-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94598870C>T , CM000669.2:g.94598870C>T | GRCh38 |
| NC_000007.13:g.94228182C>T , CM000669.1:g.94228182C>T | GRCh37 |
| NC_000007.12:g.94066118C>T | NCBI36 |
| NG_008893.1:g.62340G>A | |
| NG_008893.2:g.62340G>A | |
| NG_008893.3:g.62703G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415788.3:c.1266G>A (SGCE) | ENSP00000405313.2:p.Thr422= | |
| ENST00000428696.7:c.1110G>A (SGCE) | ENSP00000397536.3:p.Thr370= | |
| ENST00000437425.7:c.1035G>A (SGCE) | ENSP00000394061.2:p.Thr345= | |
| ENST00000445866.7:c.1158G>A (SGCE) | ENSP00000398930.2:p.Thr386= | |
| ENST00000447873.6:c.1131G>A (SGCE) | ENSP00000388734.1:p.Thr377= | |
| ENST00000642291.1:c.1093G>A (SGCE) | ||
| ENST00000642353.1:n.1129G>A (SGCE) | ||
| ENST00000642394.1:c.1008G>A (SGCE) | ENSP00000493751.1:p.Thr336= | |
| ENST00000642441.1:c.1212G>A (SGCE) | ENSP00000495994.1:p.Thr404= | |
| ENST00000642497.1:n.1904G>A (SGCE) | ||
| ENST00000642564.1:n.1258G>A (SGCE) | ||
| ENST00000642638.1:c.*1196G>A (SGCE) | ENSP00000495555.1:n.*1196G>A | |
| ENST00000642707.1:c.1239G>A (SGCE) | ENSP00000495270.1:p.Thr413= | |
| ENST00000642754.1:n.6030G>A (SGCE) | ||
| ENST00000642759.1:n.1220G>A (SGCE) | ||
| ENST00000642802.1:n.953G>A (SGCE) | ||
| ENST00000642904.1:n.1219G>A (SGCE) | ||
| ENST00000642933.1:c.1131G>A (SGCE) | ENSP00000496237.1:p.Thr377= | |
| ENST00000643020.1:c.1084G>A (SGCE) | ||
| ENST00000643041.1:c.*119G>A (SGCE) | ENSP00000495311.1:n.*119G>A | |
| ENST00000643128.1:c.1158G>A (SGCE) | ENSP00000496678.1:p.Thr386= | |
| ENST00000643160.1:c.389G>A (SGCE) | ||
| ENST00000643193.1:c.1131G>A (SGCE) | ENSP00000496559.1:p.Thr377= | |
| ENST00000643206.1:c.*739G>A (SGCE) | ENSP00000496172.1:n.*739G>A | |
| ENST00000643272.1:c.1239G>A (SGCE) | ENSP00000494488.1:p.Thr413= | |
| ENST00000643324.1:n.2049G>A (SGCE) | ||
| ENST00000643491.1:n.1059G>A (SGCE) | ||
| ENST00000643568.1:c.812G>A (SGCE) | ||
| ENST00000643605.1:c.*1118G>A (SGCE) | ENSP00000496480.1:n.*1118G>A | |
| ENST00000643610.1:c.1158G>A (SGCE) | ENSP00000494350.1:p.Thr386= | |
| ENST00000643714.1:n.1199G>A (SGCE) | ||
| ENST00000643903.1:c.1131G>A (SGCE) | ENSP00000495165.1:p.Thr377= | |
| ENST00000643991.1:c.1040G>A (SGCE) | ||
| ENST00000644087.1:c.*1208G>A (SGCE) | ENSP00000495249.1:n.*1208G>A | |
| ENST00000644116.1:c.1131G>A (SGCE) | ENSP00000495276.1:p.Thr377= | |
| ENST00000644122.1:c.1239G>A (SGCE) | ENSP00000495236.1:p.Thr413= | |
| ENST00000644268.1:n.1751G>A (SGCE) | ||
| ENST00000644373.1:n.2167G>A (SGCE) | ||
| ENST00000644375.1:c.1197G>A (SGCE) | ENSP00000494315.1:p.Thr399= | |
| ENST00000644533.1:n.1913G>A (SGCE) | ||
| ENST00000644551.1:c.1239G>A (SGCE) | ENSP00000493981.1:p.Thr413= | |
| ENST00000644609.1:c.1131G>A (SGCE) | ENSP00000496045.1:p.Thr377= | |
| ENST00000644639.1:c.*792G>A (SGCE) | ENSP00000496391.1:n.*792G>A | |
| ENST00000644658.1:c.510G>A (SGCE) | ||
| ENST00000644674.1:n.1059G>A (SGCE) | ||
| ENST00000644681.1:c.858G>A (SGCE) | ENSP00000496455.1:p.Thr286= | |
| ENST00000644682.1:c.1195G>A (SGCE) | ||
| ENST00000644816.1:c.1158G>A (SGCE) | ENSP00000494898.1:p.Thr386= | |
| ENST00000645101.1:c.1320G>A (SGCE) | ENSP00000494975.1:p.Thr440= | |
| ENST00000645109.1:c.1266G>A (SGCE) | ENSP00000495931.1:p.Thr422= | |
| ENST00000645262.1:c.1008G>A (SGCE) | ENSP00000494164.1:p.Thr336= | |
| ENST00000645445.1:c.1105G>A (SGCE) | ||
| ENST00000645535.1:c.858G>A (SGCE) | ENSP00000493984.1:p.Thr286= | |
| ENST00000645579.1:n.2051G>A (SGCE) | ||
| ENST00000645624.1:n.694G>A (SGCE) | ||
| ENST00000645665.1:n.377G>A (SGCE) | ||
| ENST00000645725.1:c.1212G>A (SGCE) | ENSP00000495480.1:p.Thr404= | |
| ENST00000645804.1:c.56+827G>A (SGCE) | ENSP00000494688.1:n.56+827G>A | |
| ENST00000646098.1:c.1134G>A (SGCE) | ENSP00000495591.1:p.Thr378= | |
| ENST00000646119.1:c.1132G>A (SGCE) | ||
| ENST00000646137.1:c.1131G>A (SGCE) | ENSP00000495199.1:p.Thr377= | |
| ENST00000646265.1:c.1220G>A (SGCE) | ||
| ENST00000646301.1:c.1104G>A (SGCE) | ||
| ENST00000646434.1:c.1380G>A (SGCE) | ||
| ENST00000646466.1:c.*1061G>A (SGCE) | ENSP00000493511.1:n.*1061G>A | |
| ENST00000646489.1:c.1266G>A (SGCE) | ENSP00000496268.1:p.Thr422= | |
| ENST00000646559.1:c.*1088G>A (SGCE) | ENSP00000495838.1:n.*1088G>A | |
| ENST00000646600.1:c.*1061G>A (SGCE) | ENSP00000494041.1:n.*1061G>A | |
| ENST00000646682.1:c.*766G>A (SGCE) | ENSP00000496461.1:n.*766G>A | |
| ENST00000646879.1:c.1131G>A (SGCE) | ENSP00000495209.1:p.Thr377= | |
| ENST00000646910.1:n.1191G>A (SGCE) | ||
| ENST00000646943.1:c.1158G>A (SGCE) | ENSP00000494666.1:p.Thr386= | |
| ENST00000647018.1:c.1266G>A (SGCE) | ENSP00000493722.1:p.Thr422= | |
| ENST00000647031.1:n.3745G>A (SGCE) | ||
| ENST00000647048.1:c.955G>A (SGCE) | ||
| ENST00000647096.1:c.1266G>A (SGCE) | ENSP00000494192.1:p.Thr422= | |
| ENST00000647110.1:c.1137G>A (SGCE) | ENSP00000494738.1:p.Thr379= | |
| ENST00000647334.1:c.1237G>A (SGCE) | ||
| ENST00000647351.1:c.1239G>A (SGCE) | ENSP00000494556.1:p.Thr413= | |
| ENST00000647379.1:n.371G>A (SGCE) | ||
| ENST00000647533.1:n.2779G>A (SGCE) | ||
| ENST00000648936.2:c.1158G>A (SGCE) MANE Select | ENSP00000497130.1:p.Thr386= | |
| ENST00000265735.11:c.1158G>A (SGCE) | ENSP00000265735.6:p.Thr386= | |
| ENST00000415788.2:c.1266G>A (SGCE) | ENSP00000405313.2:p.Thr422= | |
| ENST00000428696.6:c.1131G>A (SGCE) | ENSP00000397536.2:p.Thr377= | |
| ENST00000437425.6:c.1035G>A (SGCE) | ENSP00000394061.2:p.Thr345= | |
| ENST00000445866.6:c.1158G>A (SGCE) | ENSP00000398930.2:p.Thr386= | |
| ENST00000447873.5:c.1131G>A (SGCE) | ENSP00000388734.1:p.Thr377= | |
| ENST00000472326.2:n.268G>A (SGCE) | ||
| ENST00000522045.5:c.122+827G>A (SGCE) | ENSP00000431080.1:n.122+827G>A | |
| NM_001099400.1:c.1131G>A (SGCE) | NP_001092870.1:p.Thr377= | |
| NM_001099401.1:c.1158G>A (SGCE) | NP_001092871.1:p.Thr386= | |
| NM_001301139.1:c.1035G>A (SGCE) | NP_001288068.1:p.Thr345= | |
| NM_003919.2:c.1158G>A (SGCE) | NP_003910.1:p.Thr386= | |
| XM_005250675.3:c.1266G>A (SGCE) | XP_005250732.1:p.Thr422= | |
| XM_005250677.3:c.1239G>A (SGCE) | XP_005250734.1:p.Thr413= | |
| XM_011516495.1:c.2128-32446C>T (CASD1) | XP_011514797.1:n.2128-32446C>T | |
| XM_011516663.1:c.1266G>A (SGCE) | XP_011514965.1:p.Thr422= | |
| XM_011516664.1:c.1239G>A (SGCE) | XP_011514966.1:p.Thr413= | |
| XM_011516665.1:c.1158G>A (SGCE) | XP_011514967.1:p.Thr386= | |
| XM_011516666.1:c.1131G>A (SGCE) | XP_011514968.1:p.Thr377= | |
| XM_011516667.1:c.1071G>A (SGCE) | XP_011514969.1:p.Thr357= | |
| XM_011516668.1:c.1035G>A (SGCE) | XP_011514970.1:p.Thr345= | |
| XM_011516669.1:c.885G>A (SGCE) | XP_011514971.1:p.Thr295= | |
| NM_001346713.1:c.1266G>A (SGCE) | NP_001333642.1:p.Thr422= | |
| NM_001346715.1:c.1239G>A (SGCE) | NP_001333644.1:p.Thr413= | |
| NM_001346717.1:c.1131G>A (SGCE) | NP_001333646.1:p.Thr377= | |
| NM_001346719.1:c.1071G>A (SGCE) | NP_001333648.1:p.Thr357= | |
| NM_001346720.1:c.885G>A (SGCE) | NP_001333649.1:p.Thr295= | |
| NM_001362807.1:c.1044G>A (SGCE) | NP_001349736.1:p.Thr348= | |
| NM_001362808.1:c.858G>A (SGCE) | NP_001349737.1:p.Thr286= | |
| NM_001362809.1:c.1008G>A (SGCE) | NP_001349738.1:p.Thr336= | |
| XM_011516495.2:c.2128-32446C>T (CASD1) | XP_011514797.1:n.2128-32446C>T | |
| XM_011516663.2:c.1266G>A (SGCE) | XP_011514965.1:p.Thr422= | |
| XM_011516664.2:c.1239G>A (SGCE) | XP_011514966.1:p.Thr413= | |
| XM_011516665.3:c.1158G>A (SGCE) | XP_011514967.1:p.Thr386= | |
| XM_011516666.3:c.1131G>A (SGCE) | XP_011514968.1:p.Thr377= | |
| XM_011516667.2:c.1071G>A (SGCE) | XP_011514969.1:p.Thr357= | |
| XM_011516669.3:c.885G>A (SGCE) | XP_011514971.1:p.Thr295= | |
| XM_017012763.1:c.1071G>A (SGCE) | XP_016868252.1:p.Thr357= | |
| XM_017012767.1:c.858G>A (SGCE) | XP_016868256.1:p.Thr286= | |
| XM_024446985.1:c.1035G>A (SGCE) | XP_024302753.1:p.Thr345= | |
| XM_024446986.1:c.1008G>A (SGCE) | XP_024302754.1:p.Thr336= | |
| NM_001099400.2:c.1131G>A (SGCE) | NP_001092870.1:p.Thr377= | |
| NM_001099401.2:c.1158G>A (SGCE) | NP_001092871.1:p.Thr386= | |
| NM_001301139.2:c.1035G>A (SGCE) | NP_001288068.1:p.Thr345= | |
| NM_001346713.2:c.1266G>A (SGCE) | NP_001333642.1:p.Thr422= | |
| NM_001346715.2:c.1239G>A (SGCE) | NP_001333644.1:p.Thr413= | |
| NM_001346717.2:c.1131G>A (SGCE) | NP_001333646.1:p.Thr377= | |
| NM_001346719.2:c.1071G>A (SGCE) | NP_001333648.1:p.Thr357= | |
| NM_001346720.2:c.885G>A (SGCE) | NP_001333649.1:p.Thr295= | |
| NM_001362807.2:c.1044G>A (SGCE) | NP_001349736.1:p.Thr348= | |
| NM_001362808.2:c.858G>A (SGCE) | NP_001349737.1:p.Thr286= | |
| NM_001362809.2:c.1008G>A (SGCE) | NP_001349738.1:p.Thr336= | |
| NM_003919.3:c.1158G>A (SGCE) MANE Select | NP_003910.1:p.Thr386= |