Linked Data
ClinVar Variation Id:
2179290
dbSNP Id:
rs779770809
ExAC:
11:66283170 G / A
gnomAD v2:
11-66283170-G-A
gnomAD v3:
11-66515699-G-A
gnomAD v4:
11-66515699-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66515699G>A , CM000673.2:g.66515699G>A | GRCh38 |
| NC_000011.9:g.66283170G>A , CM000673.1:g.66283170G>A | GRCh37 |
| NC_000011.8:g.66039746G>A | NCBI36 |
| NG_009093.1:g.10052G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318312.12:c.486G>A MANE Select | ENSP00000317469.7:p.Thr162= | |
| ENST00000318312.11:c.486G>A | ENSP00000317469.7:p.Thr162= | |
| ENST00000393994.4:c.486G>A | ENSP00000377563.2:p.Thr162= | |
| ENST00000419755.3:c.597G>A | ENSP00000398526.3:p.Thr199= | |
| ENST00000455748.6:c.432+1021G>A | ENSP00000405764.2:n.432+1021G>A | |
| ENST00000524458.5:c.*146G>A | ENSP00000436195.1:n.*146G>A | |
| ENST00000524907.5:n.582G>A | ||
| ENST00000525809.5:c.213G>A | ENSP00000431187.1:p.Thr71= | |
| ENST00000526035.5:c.*193G>A | ENSP00000434197.1:n.*193G>A | |
| ENST00000526760.5:c.*193G>A | ENSP00000432140.1:n.*193G>A | |
| ENST00000527251.5:c.*193G>A | ENSP00000434360.1:n.*193G>A | |
| ENST00000528543.1:n.8G>A | ||
| ENST00000529766.5:n.493G>A | ||
| ENST00000529953.5:n.138G>A | ||
| ENST00000529955.5:n.457G>A | ||
| ENST00000532908.5:c.*146G>A | ENSP00000431866.1:n.*146G>A | |
| ENST00000533430.5:n.264G>A | ||
| ENST00000533557.5:c.*146G>A | ENSP00000434619.1:n.*146G>A | |
| ENST00000533644.5:c.439G>A | ENSP00000436073.1:p.Gly147Ser | |
| ENST00000534730.5:n.498G>A | ||
| ENST00000630659.2:c.*193G>A | ENSP00000486455.1:n.*193G>A | |
| NM_024649.4:c.486G>A | NP_078925.3:p.Thr162= | |
| NM_024649.5:c.486G>A MANE Select | NP_078925.3:p.Thr162= |