Linked Data
ClinVar Variation Id:
188752
dbSNP Id:
rs786204444
gnomAD v2:
11-66283014-C-T
gnomAD v3:
11-66515543-C-T
gnomAD v4:
11-66515543-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66515543C>T , CM000673.2:g.66515543C>T | GRCh38 |
| NC_000011.9:g.66283014C>T , CM000673.1:g.66283014C>T | GRCh37 |
| NC_000011.8:g.66039590C>T | NCBI36 |
| NG_009093.1:g.9896C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.436C>T MANE Select | ENSP00000317469.7:p.Arg146Ter | |
| ENST00000318312.11:c.436C>T | ENSP00000317469.7:p.Arg146Ter | |
| ENST00000393994.4:c.436C>T | ENSP00000377563.2:p.Arg146Ter | |
| ENST00000419755.3:c.547C>T | ENSP00000398526.3:p.Arg183Ter | |
| ENST00000455748.6:c.432+865C>T | ENSP00000405764.2:n.432+865C>T | |
| ENST00000524458.5:c.*140-150C>T | ENSP00000436195.1:n.*140-150C>T | |
| ENST00000524705.2:c.157C>T | ENSP00000436927.1:p.Arg53Ter | |
| ENST00000524907.5:n.426C>T | ||
| ENST00000525809.5:c.163C>T | ENSP00000431187.1:p.Arg55Ter | |
| ENST00000526035.5:c.*143C>T | ENSP00000434197.1:n.*143C>T | |
| ENST00000526760.5:c.*143C>T | ENSP00000432140.1:n.*143C>T | |
| ENST00000527251.5:c.*143C>T | ENSP00000434360.1:n.*143C>T | |
| ENST00000529766.5:n.443C>T | ||
| ENST00000529953.5:n.88C>T | ||
| ENST00000529955.5:n.451-150C>T | ||
| ENST00000532908.5:c.*140-150C>T | ENSP00000431866.1:n.*140-150C>T | |
| ENST00000533430.5:n.214C>T | ||
| ENST00000533557.5:c.*140-150C>T | ENSP00000434619.1:n.*140-150C>T | |
| ENST00000533644.5:c.433-150C>T | ENSP00000436073.1:n.433-150C>T | |
| ENST00000534730.5:n.448C>T | ||
| ENST00000630659.2:c.*143C>T | ENSP00000486455.1:n.*143C>T | |
| NM_024649.4:c.436C>T | NP_078925.3:p.Arg146Ter | |
| NM_024649.5:c.436C>T MANE Select | NP_078925.3:p.Arg146Ter |