Linked Data
ClinVar Variation Id:
190988
dbSNP Id:
rs786205449
gnomAD v2:
1-156849054-G-A
gnomAD v4:
1-156879262-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156879262G>A , CM000663.2:g.156879262G>A | GRCh38 |
| NC_000001.10:g.156849054G>A , CM000663.1:g.156849054G>A | GRCh37 |
| NC_000001.9:g.155115678G>A | NCBI36 |
| NG_007493.1:g.68513G>A , LRG_261:g.68513G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000674537.2:c.1766G>A | ENSP00000502725.1:p.Arg589Gln | |
| ENST00000392302.7:c.1766G>A | ENSP00000376120.3:p.Arg589Gln | |
| ENST00000497019.7:c.*538G>A | ENSP00000436804.2:n.*538G>A | |
| ENST00000524377.7:c.1946G>A MANE Select | ENSP00000431418.1:p.Arg649Gln | |
| ENST00000674537.1:c.1766G>A | ENSP00000502725.1:p.Arg589Gln | |
| ENST00000358660.3:c.1937G>A | ENSP00000351486.3:p.Arg646Gln | |
| ENST00000368196.7:c.1928G>A | ENSP00000357179.3:p.Arg643Gln | |
| ENST00000392302.6:c.1838G>A | ENSP00000376120.2:p.Arg613Gln | |
| ENST00000497019.6:c.*538G>A | ENSP00000436804.1:n.*538G>A | |
| ENST00000524377.5:c.1946G>A | ENSP00000431418.1:p.Arg649Gln | |
| ENST00000530298.5:n.2399G>A | ||
| NM_001007792.1:c.1838G>A , LRG_261t1:c.1838G>A | NP_001007793.1:p.Arg613Gln | |
| NM_001012331.1:c.1928G>A , LRG_261t2:c.1928G>A | NP_001012331.1:p.Arg643Gln | |
| NM_002529.3:c.1946G>A , LRG_261t3:c.1946G>A | NP_002520.2:p.Arg649Gln | |
| NM_001012331.2:c.1928G>A | NP_001012331.1:p.Arg643Gln | |
| NM_002529.4:c.1946G>A MANE Select | NP_002520.2:p.Arg649Gln |