Linked Data
ClinVar Variation Id:
497269
dbSNP Id:
rs139440109
ExAC:
1:235594044 C / T
gnomAD v2:
1-235594044-C-T
gnomAD v3:
1-235430729-C-T
gnomAD v4:
1-235430729-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235430729C>T , CM000663.2:g.235430729C>T | GRCh38 |
| NC_000001.10:g.235594044C>T , CM000663.1:g.235594044C>T | GRCh37 |
| NC_000001.9:g.233660667C>T | NCBI36 |
| NG_009230.1:g.68317C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366601.8:c.396C>T | ENSP00000355560.4:p.Ser132= | |
| ENST00000406207.5:c.585C>T | ENSP00000384571.1:p.Ser195= | |
| ENST00000472011.6:n.671C>T | ||
| ENST00000482230.6:n.322-3475C>T | ||
| ENST00000543662.4:c.585C>T | ENSP00000439170.1:p.Ser195= | |
| ENST00000642339.1:c.*359C>T | ENSP00000495425.1:n.*359C>T | |
| ENST00000642372.1:c.368-3475C>T | ||
| ENST00000642431.1:c.1162C>T | ||
| ENST00000642463.1:c.*257C>T | ENSP00000495007.1:n.*257C>T | |
| ENST00000642503.1:c.*359C>T | ENSP00000494334.1:n.*359C>T | |
| ENST00000642610.2:c.585C>T MANE Select | ENSP00000494796.1:p.Ser195= | |
| ENST00000643125.1:c.585C>T | ENSP00000494102.1:p.Ser195= | |
| ENST00000643142.1:c.*76C>T | ENSP00000494755.1:n.*76C>T | |
| ENST00000643238.1:c.561-3475C>T | ENSP00000495916.1:n.561-3475C>T | |
| ENST00000643410.1:c.585C>T | ENSP00000495030.1:p.Ser195= | |
| ENST00000643418.1:c.*359C>T | ENSP00000495711.1:n.*359C>T | |
| ENST00000643487.1:n.1272C>T | ||
| ENST00000643524.1:c.*170C>T | ENSP00000494026.1:n.*170C>T | |
| ENST00000643615.1:c.*359C>T | ENSP00000496103.1:n.*359C>T | |
| ENST00000643993.1:n.628C>T | ||
| ENST00000643994.1:c.*359C>T | ENSP00000496322.1:n.*359C>T | |
| ENST00000644037.1:c.*233-3475C>T | ENSP00000496408.1:n.*233-3475C>T | |
| ENST00000644055.1:c.*984C>T | ENSP00000496307.1:n.*984C>T | |
| ENST00000644126.1:n.1619C>T | ||
| ENST00000644217.1:c.585C>T | ENSP00000494646.1:p.Ser195= | |
| ENST00000644265.1:c.256-3475C>T | ||
| ENST00000644578.1:c.399C>T | ENSP00000495953.1:p.Ser133= | |
| ENST00000644604.1:c.585C>T | ENSP00000495961.1:p.Ser195= | |
| ENST00000644680.1:c.*1106C>T | ENSP00000496173.1:n.*1106C>T | |
| ENST00000644838.1:c.585C>T | ENSP00000495910.1:p.Ser195= | |
| ENST00000644910.1:c.328C>T | ||
| ENST00000645069.1:c.*359C>T | ENSP00000496644.1:n.*359C>T | |
| ENST00000645205.1:c.585C>T | ENSP00000495823.1:p.Ser195= | |
| ENST00000645351.1:c.585C>T | ENSP00000494319.1:p.Ser195= | |
| ENST00000645372.1:c.225C>T | ENSP00000496612.1:p.Ser75= | |
| ENST00000645551.1:c.*76C>T | ENSP00000495928.1:n.*76C>T | |
| ENST00000645578.1:c.*359C>T | ENSP00000496495.1:n.*359C>T | |
| ENST00000645582.1:c.*415C>T | ENSP00000494980.1:n.*415C>T | |
| ENST00000645655.1:c.585C>T | ENSP00000495202.1:p.Ser195= | |
| ENST00000645662.1:c.*270C>T | ENSP00000495964.1:n.*270C>T | |
| ENST00000645836.1:c.*359C>T | ENSP00000493915.1:n.*359C>T | |
| ENST00000645899.1:c.585C>T | ENSP00000496773.1:p.Ser195= | |
| ENST00000645964.1:c.372-3475C>T | ENSP00000494208.1:n.372-3475C>T | |
| ENST00000646104.1:c.*415C>T | ENSP00000495475.1:n.*415C>T | |
| ENST00000646186.1:c.*257C>T | ENSP00000493806.1:n.*257C>T | |
| ENST00000646281.1:c.585C>T | ENSP00000495225.1:p.Ser195= | |
| ENST00000646286.1:c.*478C>T | ENSP00000494291.1:n.*478C>T | |
| ENST00000646463.1:c.*257C>T | ENSP00000494541.1:n.*257C>T | |
| ENST00000646495.1:n.279C>T | ||
| ENST00000646528.1:c.*1075C>T | ENSP00000496553.1:n.*1075C>T | |
| ENST00000646536.1:c.585C>T | ENSP00000494801.1:p.Ser195= | |
| ENST00000646624.1:c.585C>T | ENSP00000494575.1:p.Ser195= | |
| ENST00000646821.1:c.396C>T | ENSP00000495257.1:p.Ser132= | |
| ENST00000646842.1:n.255C>T | ||
| ENST00000646848.1:c.585C>T | ENSP00000495831.1:p.Ser195= | |
| ENST00000646929.1:c.487C>T | ||
| ENST00000647186.1:c.585C>T | ENSP00000494775.1:p.Ser195= | |
| ENST00000647233.1:n.701C>T | ||
| ENST00000647322.1:c.176C>T | ||
| ENST00000647332.1:c.*146-3475C>T | ENSP00000495024.1:n.*146-3475C>T | |
| ENST00000647407.1:c.351C>T | ENSP00000495319.1:p.Ser117= | |
| ENST00000647418.1:c.*359C>T | ENSP00000493552.1:n.*359C>T | |
| ENST00000647428.1:c.246C>T | ENSP00000495630.1:p.Ser82= | |
| ENST00000651186.1:c.246C>T | ENSP00000498645.1:p.Ser82= | |
| ENST00000366601.7:c.585C>T | ENSP00000355560.3:p.Ser195= | |
| ENST00000406207.4:c.585C>T | ENSP00000384571.1:p.Ser195= | |
| ENST00000461651.1:n.371C>T | ||
| ENST00000472011.5:n.637C>T | ||
| ENST00000482230.5:n.800C>T | ||
| ENST00000543662.3:c.585C>T | ENSP00000439170.1:p.Ser195= | |
| NM_001079515.2:c.585C>T | NP_001072983.1:p.Ser195= | |
| NM_001287801.1:c.585C>T | NP_001274730.1:p.Ser195= | |
| NM_001287802.1:c.246C>T | NP_001274731.1:p.Ser82= | |
| NM_003193.4:c.585C>T | NP_003184.1:p.Ser195= | |
| NM_003193.5:c.585C>T MANE Select | NP_003184.1:p.Ser195= | |
| NM_001079515.3:c.585C>T | NP_001072983.1:p.Ser195= | |
| NM_001287801.2:c.585C>T | NP_001274730.1:p.Ser195= | |
| NM_001287802.2:c.246C>T | NP_001274731.1:p.Ser82= |