Linked Data
ClinVar Variation Id:
426162
ClinVar RCV Id:
RCV000489854
dbSNP Id:
rs1085307480
COSMIC:
COSM1235099
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.28617747C>T , CM000672.2:g.28617747C>T | GRCh38 |
| NC_000010.10:g.28906676C>T , CM000672.1:g.28906676C>T | GRCh37 |
| NC_000010.9:g.28946682C>T | NCBI36 |
| NG_046603.1:g.90160C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000495268.3:c.1929C>T | ENSP00000514964.1:n.1929C>T | |
| ENST00000700325.1:c.1825C>T | ENSP00000514952.1:p.Arg609Ter | |
| ENST00000706612.1:c.1825C>T | ENSP00000516469.1:p.Arg609Ter | |
| ENST00000354911.9:c.1837C>T MANE Select | ENSP00000346986.4:p.Arg613Ter | |
| ENST00000414108.6:c.*403C>T | ENSP00000415645.2:n.*403C>T | |
| ENST00000420266.6:c.*1751C>T | ENSP00000404758.2:n.*1751C>T | |
| ENST00000442148.6:c.1702C>T | ENSP00000400848.2:p.Arg568Ter | |
| ENST00000628285.3:c.*1263C>T | ENSP00000486994.2:n.*1263C>T | |
| ENST00000679398.1:c.1702C>T | ENSP00000506624.1:p.Arg568Ter | |
| ENST00000679428.1:c.1702C>T | ENSP00000506445.1:p.Arg568Ter | |
| ENST00000679570.1:c.*1832C>T | ENSP00000506705.1:n.*1832C>T | |
| ENST00000680735.1:c.1708C>T | ENSP00000505513.1:p.Arg570Ter | |
| ENST00000681112.1:c.*1687C>T | ENSP00000505444.1:n.*1687C>T | |
| ENST00000345541.6:n.4065C>T | ||
| ENST00000347934.8:c.1528C>T | ENSP00000311106.4:p.Arg510Ter | |
| ENST00000354911.8:c.1837C>T | ENSP00000346986.4:p.Arg613Ter | |
| ENST00000375646.5:c.1381C>T | ENSP00000364797.1:p.Arg461Ter | |
| ENST00000375664.8:c.1702C>T | ENSP00000364816.3:p.Arg568Ter | |
| ENST00000439676.5:c.*618C>T | ENSP00000415727.1:n.*618C>T | |
| ENST00000480474.2:n.1455C>T | ||
| ENST00000628285.2:c.*1487C>T | ENSP00000486994.1:n.*1487C>T | |
| NM_016628.4:c.1837C>T | NP_057712.2:p.Arg613Ter | |
| NM_100264.2:c.1702C>T | NP_567822.1:p.Arg568Ter | |
| NM_100486.3:c.1528C>T | NP_567823.1:p.Arg510Ter | |
| XM_005252454.2:c.1855C>T | XP_005252511.1:p.Arg619Ter | |
| XM_011519491.1:c.1702C>T | XP_011517793.1:p.Arg568Ter | |
| XR_930491.1:n.1981C>T | ||
| XM_017016315.2:c.1699C>T | XP_016871804.1:p.Arg567Ter | |
| XM_017016317.2:c.1393C>T | XP_016871806.1:p.Arg465Ter | |
| XM_017016318.2:c.1390C>T | XP_016871807.1:p.Arg464Ter | |
| XM_024448036.1:c.1702C>T | XP_024303804.1:p.Arg568Ter | |
| XR_001747110.1:n.2019C>T | ||
| XR_930491.2:n.1981C>T | ||
| NM_016628.5:c.1837C>T MANE Select | NP_057712.2:p.Arg613Ter | |
| NM_100264.3:c.1702C>T | NP_567822.1:p.Arg568Ter | |
| NM_100486.4:c.1528C>T | NP_567823.1:p.Arg510Ter |