Linked Data
ClinVar Variation Id:
879896
ClinVar RCV Id:
RCV001107783
dbSNP Id:
rs148576114
gnomAD v4:
11-66515698-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66515698C>A , CM000673.2:g.66515698C>A | GRCh38 |
| NC_000011.9:g.66283169C>A , CM000673.1:g.66283169C>A | GRCh37 |
| NC_000011.8:g.66039745C>A | NCBI36 |
| NG_009093.1:g.10051C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318312.12:c.485C>A MANE Select | ENSP00000317469.7:p.Thr162Lys | |
| ENST00000318312.11:c.485C>A | ENSP00000317469.7:p.Thr162Lys | |
| ENST00000393994.4:c.485C>A | ENSP00000377563.2:p.Thr162Lys | |
| ENST00000419755.3:c.596C>A | ENSP00000398526.3:p.Thr199Lys | |
| ENST00000455748.6:c.432+1020C>A | ENSP00000405764.2:n.432+1020C>A | |
| ENST00000524458.5:c.*145C>A | ENSP00000436195.1:n.*145C>A | |
| ENST00000524907.5:n.581C>A | ||
| ENST00000525809.5:c.212C>A | ENSP00000431187.1:p.Thr71Lys | |
| ENST00000526035.5:c.*192C>A | ENSP00000434197.1:n.*192C>A | |
| ENST00000526760.5:c.*192C>A | ENSP00000432140.1:n.*192C>A | |
| ENST00000527251.5:c.*192C>A | ENSP00000434360.1:n.*192C>A | |
| ENST00000528543.1:n.7C>A | ||
| ENST00000529766.5:n.492C>A | ||
| ENST00000529953.5:n.137C>A | ||
| ENST00000529955.5:n.456C>A | ||
| ENST00000532908.5:c.*145C>A | ENSP00000431866.1:n.*145C>A | |
| ENST00000533430.5:n.263C>A | ||
| ENST00000533557.5:c.*145C>A | ENSP00000434619.1:n.*145C>A | |
| ENST00000533644.5:c.438C>A | ENSP00000436073.1:p.Asp146Glu | |
| ENST00000534730.5:n.497C>A | ||
| ENST00000630659.2:c.*192C>A | ENSP00000486455.1:n.*192C>A | |
| NM_024649.4:c.485C>A | NP_078925.3:p.Thr162Lys | |
| NM_024649.5:c.485C>A MANE Select | NP_078925.3:p.Thr162Lys |