Linked Data
ClinVar Variation Id:
2844917
ClinVar RCV Id:
RCV003719255
MyVariant Identifiers:
chr1:g.235602221C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235438906C>T , CM000663.2:g.235438906C>T | GRCh38 |
| NC_000001.10:g.235602221C>T , CM000663.1:g.235602221C>T | GRCh37 |
| NC_000001.9:g.233668844C>T | NCBI36 |
| NG_009230.1:g.76494C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366601.8:c.1065C>T | ENSP00000355560.4:p.Tyr355= | |
| ENST00000406207.5:c.1254C>T | ENSP00000384571.1:p.Tyr418= | |
| ENST00000472011.6:n.1978C>T | ||
| ENST00000543662.4:c.1407C>T | ENSP00000439170.1:p.Tyr469= | |
| ENST00000642339.1:c.*951C>T | ENSP00000495425.1:n.*951C>T | |
| ENST00000642431.1:c.1831C>T | ||
| ENST00000642463.1:c.*1152C>T | ENSP00000495007.1:n.*1152C>T | |
| ENST00000642503.1:c.*1028C>T | ENSP00000494334.1:n.*1028C>T | |
| ENST00000642610.2:c.1254C>T MANE Select | ENSP00000494796.1:p.Tyr418= | |
| ENST00000642764.1:n.2085C>T | ||
| ENST00000643125.1:c.*269C>T | ENSP00000494102.1:n.*269C>T | |
| ENST00000643142.1:c.*745C>T | ENSP00000494755.1:n.*745C>T | |
| ENST00000643238.1:c.*274C>T | ENSP00000495916.1:n.*274C>T | |
| ENST00000643410.1:c.*544C>T | ENSP00000495030.1:n.*544C>T | |
| ENST00000643487.1:n.1941C>T | ||
| ENST00000643524.1:c.*839C>T | ENSP00000494026.1:n.*839C>T | |
| ENST00000643615.1:c.*1116+1432C>T | ENSP00000496103.1:n.*1116+1432C>T | |
| ENST00000643993.1:n.1390C>T | ||
| ENST00000643994.1:c.*1254C>T | ENSP00000496322.1:n.*1254C>T | |
| ENST00000644037.1:c.*1464C>T | ENSP00000496408.1:n.*1464C>T | |
| ENST00000644055.1:c.*1879C>T | ENSP00000496307.1:n.*1879C>T | |
| ENST00000644126.1:n.2926C>T | ||
| ENST00000644217.1:c.1254C>T | ENSP00000494646.1:p.Tyr418= | |
| ENST00000644265.1:c.623C>T | ||
| ENST00000644578.1:c.1068C>T | ENSP00000495953.1:p.Tyr356= | |
| ENST00000644604.1:c.1254C>T | ENSP00000495961.1:p.Tyr418= | |
| ENST00000644680.1:c.*1775C>T | ENSP00000496173.1:n.*1775C>T | |
| ENST00000644838.1:c.*637C>T | ENSP00000495910.1:n.*637C>T | |
| ENST00000644910.1:c.1861C>T | ||
| ENST00000645205.1:c.1254C>T | ENSP00000495823.1:p.Tyr418= | |
| ENST00000645351.1:c.1254C>T | ENSP00000494319.1:p.Tyr418= | |
| ENST00000645551.1:c.*971C>T | ENSP00000495928.1:n.*971C>T | |
| ENST00000645578.1:c.*1028C>T | ENSP00000496495.1:n.*1028C>T | |
| ENST00000645582.1:c.*1084C>T | ENSP00000494980.1:n.*1084C>T | |
| ENST00000645655.1:c.1254C>T | ENSP00000495202.1:p.Tyr418= | |
| ENST00000645662.1:c.*713C>T | ENSP00000495964.1:n.*713C>T | |
| ENST00000645836.1:c.*1028C>T | ENSP00000493915.1:n.*1028C>T | |
| ENST00000645899.1:c.1254C>T | ENSP00000496773.1:p.Tyr418= | |
| ENST00000645964.1:c.*1120C>T | ENSP00000494208.1:n.*1120C>T | |
| ENST00000646104.1:c.*1722C>T | ENSP00000495475.1:n.*1722C>T | |
| ENST00000646186.1:c.*926C>T | ENSP00000493806.1:n.*926C>T | |
| ENST00000646286.1:c.*1147C>T | ENSP00000494291.1:n.*1147C>T | |
| ENST00000646463.1:c.*1019C>T | ENSP00000494541.1:n.*1019C>T | |
| ENST00000646528.1:c.*1970C>T | ENSP00000496553.1:n.*1970C>T | |
| ENST00000646536.1:c.*544C>T | ENSP00000494801.1:n.*544C>T | |
| ENST00000646624.1:c.1254C>T | ENSP00000494575.1:p.Tyr418= | |
| ENST00000646821.1:c.*544C>T | ENSP00000495257.1:n.*544C>T | |
| ENST00000646842.1:n.698C>T | ||
| ENST00000646848.1:c.*469C>T | ENSP00000495831.1:n.*469C>T | |
| ENST00000647186.1:c.1254C>T | ENSP00000494775.1:p.Tyr418= | |
| ENST00000647233.1:n.2234C>T | ||
| ENST00000647322.1:c.845C>T | ||
| ENST00000647418.1:c.*1028C>T | ENSP00000493552.1:n.*1028C>T | |
| ENST00000647428.1:c.915C>T | ENSP00000495630.1:p.Tyr305= | |
| ENST00000651186.1:c.915C>T | ENSP00000498645.1:p.Tyr305= | |
| ENST00000366601.7:c.1254C>T | ENSP00000355560.3:p.Tyr418= | |
| ENST00000406207.4:c.1254C>T | ENSP00000384571.1:p.Tyr418= | |
| ENST00000472011.5:n.1306C>T | ||
| ENST00000543662.3:c.1407C>T | ENSP00000439170.1:p.Tyr469= | |
| NM_001079515.2:c.1254C>T | NP_001072983.1:p.Tyr418= | |
| NM_001287801.1:c.1407C>T | NP_001274730.1:p.Tyr469= | |
| NM_001287802.1:c.915C>T | NP_001274731.1:p.Tyr305= | |
| NM_003193.4:c.1254C>T | NP_003184.1:p.Tyr418= | |
| NM_003193.5:c.1254C>T MANE Select | NP_003184.1:p.Tyr418= | |
| NM_001079515.3:c.1254C>T | NP_001072983.1:p.Tyr418= | |
| NM_001287801.2:c.1407C>T | NP_001274730.1:p.Tyr469= | |
| NM_001287802.2:c.915C>T | NP_001274731.1:p.Tyr305= |