Linked Data
ClinVar Variation Id:
2640095
ClinVar RCV Id:
RCV003414967
dbSNP Id:
rs753639709
ExAC:
1:235602191 C / T
gnomAD v2:
1-235602191-C-T
gnomAD v3:
1-235438876-C-T
gnomAD v4:
1-235438876-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235438876C>T , CM000663.2:g.235438876C>T | GRCh38 |
| NC_000001.10:g.235602191C>T , CM000663.1:g.235602191C>T | GRCh37 |
| NC_000001.9:g.233668814C>T | NCBI36 |
| NG_009230.1:g.76464C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366601.8:c.1035C>T | ENSP00000355560.4:p.Ser345= | |
| ENST00000406207.5:c.1224C>T | ENSP00000384571.1:p.Ser408= | |
| ENST00000472011.6:n.1948C>T | ||
| ENST00000543662.4:c.1377C>T | ENSP00000439170.1:p.Ser459= | |
| ENST00000642339.1:c.*921C>T | ENSP00000495425.1:n.*921C>T | |
| ENST00000642431.1:c.1801C>T | ||
| ENST00000642463.1:c.*1122C>T | ENSP00000495007.1:n.*1122C>T | |
| ENST00000642503.1:c.*998C>T | ENSP00000494334.1:n.*998C>T | |
| ENST00000642610.2:c.1224C>T MANE Select | ENSP00000494796.1:p.Ser408= | |
| ENST00000642764.1:n.2055C>T | ||
| ENST00000643125.1:c.*239C>T | ENSP00000494102.1:n.*239C>T | |
| ENST00000643142.1:c.*715C>T | ENSP00000494755.1:n.*715C>T | |
| ENST00000643238.1:c.*244C>T | ENSP00000495916.1:n.*244C>T | |
| ENST00000643410.1:c.*514C>T | ENSP00000495030.1:n.*514C>T | |
| ENST00000643487.1:n.1911C>T | ||
| ENST00000643524.1:c.*809C>T | ENSP00000494026.1:n.*809C>T | |
| ENST00000643615.1:c.*1116+1402C>T | ENSP00000496103.1:n.*1116+1402C>T | |
| ENST00000643993.1:n.1360C>T | ||
| ENST00000643994.1:c.*1224C>T | ENSP00000496322.1:n.*1224C>T | |
| ENST00000644037.1:c.*1434C>T | ENSP00000496408.1:n.*1434C>T | |
| ENST00000644055.1:c.*1849C>T | ENSP00000496307.1:n.*1849C>T | |
| ENST00000644126.1:n.2896C>T | ||
| ENST00000644217.1:c.1224C>T | ENSP00000494646.1:p.Ser408= | |
| ENST00000644265.1:c.593C>T | ||
| ENST00000644578.1:c.1038C>T | ENSP00000495953.1:p.Ser346= | |
| ENST00000644604.1:c.1224C>T | ENSP00000495961.1:p.Ser408= | |
| ENST00000644680.1:c.*1745C>T | ENSP00000496173.1:n.*1745C>T | |
| ENST00000644838.1:c.*607C>T | ENSP00000495910.1:n.*607C>T | |
| ENST00000644910.1:c.1831C>T | ||
| ENST00000645205.1:c.1224C>T | ENSP00000495823.1:p.Ser408= | |
| ENST00000645351.1:c.1224C>T | ENSP00000494319.1:p.Ser408= | |
| ENST00000645551.1:c.*941C>T | ENSP00000495928.1:n.*941C>T | |
| ENST00000645578.1:c.*998C>T | ENSP00000496495.1:n.*998C>T | |
| ENST00000645582.1:c.*1054C>T | ENSP00000494980.1:n.*1054C>T | |
| ENST00000645655.1:c.1224C>T | ENSP00000495202.1:p.Ser408= | |
| ENST00000645662.1:c.*683C>T | ENSP00000495964.1:n.*683C>T | |
| ENST00000645836.1:c.*998C>T | ENSP00000493915.1:n.*998C>T | |
| ENST00000645899.1:c.1224C>T | ENSP00000496773.1:p.Ser408= | |
| ENST00000645964.1:c.*1090C>T | ENSP00000494208.1:n.*1090C>T | |
| ENST00000646104.1:c.*1692C>T | ENSP00000495475.1:n.*1692C>T | |
| ENST00000646186.1:c.*896C>T | ENSP00000493806.1:n.*896C>T | |
| ENST00000646286.1:c.*1117C>T | ENSP00000494291.1:n.*1117C>T | |
| ENST00000646463.1:c.*989C>T | ENSP00000494541.1:n.*989C>T | |
| ENST00000646528.1:c.*1940C>T | ENSP00000496553.1:n.*1940C>T | |
| ENST00000646536.1:c.*514C>T | ENSP00000494801.1:n.*514C>T | |
| ENST00000646624.1:c.1224C>T | ENSP00000494575.1:p.Ser408= | |
| ENST00000646821.1:c.*514C>T | ENSP00000495257.1:n.*514C>T | |
| ENST00000646842.1:n.668C>T | ||
| ENST00000646848.1:c.*439C>T | ENSP00000495831.1:n.*439C>T | |
| ENST00000647186.1:c.1224C>T | ENSP00000494775.1:p.Ser408= | |
| ENST00000647233.1:n.2204C>T | ||
| ENST00000647322.1:c.815C>T | ||
| ENST00000647418.1:c.*998C>T | ENSP00000493552.1:n.*998C>T | |
| ENST00000647428.1:c.885C>T | ENSP00000495630.1:p.Ser295= | |
| ENST00000651186.1:c.885C>T | ENSP00000498645.1:p.Ser295= | |
| ENST00000366601.7:c.1224C>T | ENSP00000355560.3:p.Ser408= | |
| ENST00000406207.4:c.1224C>T | ENSP00000384571.1:p.Ser408= | |
| ENST00000472011.5:n.1276C>T | ||
| ENST00000543662.3:c.1377C>T | ENSP00000439170.1:p.Ser459= | |
| NM_001079515.2:c.1224C>T | NP_001072983.1:p.Ser408= | |
| NM_001287801.1:c.1377C>T | NP_001274730.1:p.Ser459= | |
| NM_001287802.1:c.885C>T | NP_001274731.1:p.Ser295= | |
| NM_003193.4:c.1224C>T | NP_003184.1:p.Ser408= | |
| NM_003193.5:c.1224C>T MANE Select | NP_003184.1:p.Ser408= | |
| NM_001079515.3:c.1224C>T | NP_001072983.1:p.Ser408= | |
| NM_001287801.2:c.1377C>T | NP_001274730.1:p.Ser459= | |
| NM_001287802.2:c.885C>T | NP_001274731.1:p.Ser295= |