Linked Data
ClinVar Variation Id:
5292
ClinVar RCV Id:
RCV000005611
dbSNP Id:
rs121908384
PubMed:
PMID:12389028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235437471T>A , CM000663.2:g.235437471T>A | GRCh38 |
| NC_000001.10:g.235600786T>A , CM000663.1:g.235600786T>A | GRCh37 |
| NC_000001.9:g.233667409T>A | NCBI36 |
| NG_009230.1:g.75059T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366601.8:c.924T>A | ENSP00000355560.4:p.Cys308Ter | |
| ENST00000406207.5:c.1113T>A | ENSP00000384571.1:p.Cys371Ter | |
| ENST00000472011.6:n.1837T>A | ||
| ENST00000543662.4:c.1266T>A | ENSP00000439170.1:p.Cys422Ter | |
| ENST00000642339.1:c.*810T>A | ENSP00000495425.1:n.*810T>A | |
| ENST00000642431.1:c.1690T>A | ||
| ENST00000642463.1:c.*1011T>A | ENSP00000495007.1:n.*1011T>A | |
| ENST00000642503.1:c.*887T>A | ENSP00000494334.1:n.*887T>A | |
| ENST00000642610.2:c.1113T>A MANE Select | ENSP00000494796.1:p.Cys371Ter | |
| ENST00000642764.1:n.1944T>A | ||
| ENST00000643125.1:c.*128T>A | ENSP00000494102.1:n.*128T>A | |
| ENST00000643142.1:c.*604T>A | ENSP00000494755.1:n.*604T>A | |
| ENST00000643238.1:c.*133T>A | ENSP00000495916.1:n.*133T>A | |
| ENST00000643410.1:c.*403T>A | ENSP00000495030.1:n.*403T>A | |
| ENST00000643487.1:n.1800T>A | ||
| ENST00000643524.1:c.*698T>A | ENSP00000494026.1:n.*698T>A | |
| ENST00000643615.1:c.*1113T>A | ENSP00000496103.1:n.*1113T>A | |
| ENST00000643993.1:n.1249T>A | ||
| ENST00000643994.1:c.*1113T>A | ENSP00000496322.1:n.*1113T>A | |
| ENST00000644037.1:c.*1323T>A | ENSP00000496408.1:n.*1323T>A | |
| ENST00000644055.1:c.*1738T>A | ENSP00000496307.1:n.*1738T>A | |
| ENST00000644126.1:n.2785T>A | ||
| ENST00000644217.1:c.1113T>A | ENSP00000494646.1:p.Cys371Ter | |
| ENST00000644265.1:c.482T>A | ||
| ENST00000644578.1:c.927T>A | ENSP00000495953.1:p.Cys309Ter | |
| ENST00000644604.1:c.1113T>A | ENSP00000495961.1:p.Cys371Ter | |
| ENST00000644680.1:c.*1634T>A | ENSP00000496173.1:n.*1634T>A | |
| ENST00000644838.1:c.*496T>A | ENSP00000495910.1:n.*496T>A | |
| ENST00000644910.1:c.1720T>A | ||
| ENST00000645205.1:c.1113T>A | ENSP00000495823.1:p.Cys371Ter | |
| ENST00000645351.1:c.1113T>A | ENSP00000494319.1:p.Cys371Ter | |
| ENST00000645551.1:c.*830T>A | ENSP00000495928.1:n.*830T>A | |
| ENST00000645578.1:c.*887T>A | ENSP00000496495.1:n.*887T>A | |
| ENST00000645582.1:c.*943T>A | ENSP00000494980.1:n.*943T>A | |
| ENST00000645655.1:c.1113T>A | ENSP00000495202.1:p.Cys371Ter | |
| ENST00000645662.1:c.*572T>A | ENSP00000495964.1:n.*572T>A | |
| ENST00000645836.1:c.*887T>A | ENSP00000493915.1:n.*887T>A | |
| ENST00000645899.1:c.1113T>A | ENSP00000496773.1:p.Cys371Ter | |
| ENST00000645964.1:c.*979T>A | ENSP00000494208.1:n.*979T>A | |
| ENST00000646104.1:c.*1581T>A | ENSP00000495475.1:n.*1581T>A | |
| ENST00000646186.1:c.*785T>A | ENSP00000493806.1:n.*785T>A | |
| ENST00000646286.1:c.*1006T>A | ENSP00000494291.1:n.*1006T>A | |
| ENST00000646463.1:c.*878T>A | ENSP00000494541.1:n.*878T>A | |
| ENST00000646528.1:c.*1829T>A | ENSP00000496553.1:n.*1829T>A | |
| ENST00000646536.1:c.*403T>A | ENSP00000494801.1:n.*403T>A | |
| ENST00000646624.1:c.1113T>A | ENSP00000494575.1:p.Cys371Ter | |
| ENST00000646821.1:c.*403T>A | ENSP00000495257.1:n.*403T>A | |
| ENST00000646842.1:n.557T>A | ||
| ENST00000646848.1:c.*328T>A | ENSP00000495831.1:n.*328T>A | |
| ENST00000647186.1:c.1113T>A | ENSP00000494775.1:p.Cys371Ter | |
| ENST00000647233.1:n.2093T>A | ||
| ENST00000647322.1:c.704T>A | ||
| ENST00000647418.1:c.*887T>A | ENSP00000493552.1:n.*887T>A | |
| ENST00000647428.1:c.774T>A | ENSP00000495630.1:p.Cys258Ter | |
| ENST00000651186.1:c.774T>A | ENSP00000498645.1:p.Cys258Ter | |
| ENST00000366601.7:c.1113T>A | ENSP00000355560.3:p.Cys371Ter | |
| ENST00000406207.4:c.1113T>A | ENSP00000384571.1:p.Cys371Ter | |
| ENST00000472011.5:n.1165T>A | ||
| ENST00000543662.3:c.1266T>A | ENSP00000439170.1:p.Cys422Ter | |
| NM_001079515.2:c.1113T>A | NP_001072983.1:p.Cys371Ter | |
| NM_001287801.1:c.1266T>A | NP_001274730.1:p.Cys422Ter | |
| NM_001287802.1:c.774T>A | NP_001274731.1:p.Cys258Ter | |
| NM_003193.4:c.1113T>A | NP_003184.1:p.Cys371Ter | |
| NM_003193.5:c.1113T>A MANE Select | NP_003184.1:p.Cys371Ter | |
| NM_001079515.3:c.1113T>A | NP_001072983.1:p.Cys371Ter | |
| NM_001287801.2:c.1266T>A | NP_001274730.1:p.Cys422Ter | |
| NM_001287802.2:c.774T>A | NP_001274731.1:p.Cys258Ter |