Linked Data
ClinVar Variation Id:
1480124
dbSNP Id:
rs1319438351
gnomAD v2:
11-66283175-A-G
gnomAD v4:
11-66515704-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66515704A>G , CM000673.2:g.66515704A>G | GRCh38 |
| NC_000011.9:g.66283175A>G , CM000673.1:g.66283175A>G | GRCh37 |
| NC_000011.8:g.66039751A>G | NCBI36 |
| NG_009093.1:g.10057A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318312.12:c.491A>G MANE Select | ENSP00000317469.7:p.Glu164Gly | |
| ENST00000318312.11:c.491A>G | ENSP00000317469.7:p.Glu164Gly | |
| ENST00000393994.4:c.491A>G | ENSP00000377563.2:p.Glu164Gly | |
| ENST00000419755.3:c.602A>G | ENSP00000398526.3:p.Glu201Gly | |
| ENST00000455748.6:c.432+1026A>G | ENSP00000405764.2:n.432+1026A>G | |
| ENST00000524458.5:c.*151A>G | ENSP00000436195.1:n.*151A>G | |
| ENST00000524907.5:n.587A>G | ||
| ENST00000525809.5:c.218A>G | ENSP00000431187.1:p.Glu73Gly | |
| ENST00000526035.5:c.*198A>G | ENSP00000434197.1:n.*198A>G | |
| ENST00000526760.5:c.*198A>G | ENSP00000432140.1:n.*198A>G | |
| ENST00000527251.5:c.*198A>G | ENSP00000434360.1:n.*198A>G | |
| ENST00000528543.1:n.13A>G | ||
| ENST00000529766.5:n.498A>G | ||
| ENST00000529953.5:n.143A>G | ||
| ENST00000529955.5:n.462A>G | ||
| ENST00000532908.5:c.*151A>G | ENSP00000431866.1:n.*151A>G | |
| ENST00000533430.5:n.269A>G | ||
| ENST00000533557.5:c.*151A>G | ENSP00000434619.1:n.*151A>G | |
| ENST00000533644.5:c.444A>G | ENSP00000436073.1:p.Arg148= | |
| ENST00000534730.5:n.503A>G | ||
| ENST00000630659.2:c.*198A>G | ENSP00000486455.1:n.*198A>G | |
| NM_024649.4:c.491A>G | NP_078925.3:p.Glu164Gly | |
| NM_024649.5:c.491A>G MANE Select | NP_078925.3:p.Glu164Gly |