ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156876526A>G , CM000663.2:g.156876526A>G | GRCh38 |
| NC_000001.10:g.156846318A>G , CM000663.1:g.156846318A>G | GRCh37 |
| NC_000001.9:g.155112942A>G | NCBI36 |
| NG_007493.1:g.65777A>G , LRG_261:g.65777A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.1579A>G | ENSP00000502725.1:p.Met527Val | |
| ENST00000392302.7:c.1579A>G | ENSP00000376120.3:p.Met527Val | |
| ENST00000497019.7:c.*351A>G | ENSP00000436804.2:n.*351A>G | |
| ENST00000524377.7:c.1759A>G MANE Select | ENSP00000431418.1:p.Met587Val | |
| ENST00000674537.1:c.1579A>G | ENSP00000502725.1:p.Met527Val | |
| ENST00000358660.3:c.1750A>G | ENSP00000351486.3:p.Met584Val | |
| ENST00000368196.7:c.1741A>G | ENSP00000357179.3:p.Met581Val | |
| ENST00000392302.6:c.1651A>G | ENSP00000376120.2:p.Met551Val | |
| ENST00000497019.6:c.*351A>G | ENSP00000436804.1:n.*351A>G | |
| ENST00000524377.5:c.1759A>G | ENSP00000431418.1:p.Met587Val | |
| ENST00000530298.5:n.2212A>G | ||
| NM_001007792.1:c.1651A>G , LRG_261t1:c.1651A>G | NP_001007793.1:p.Met551Val | |
| NM_001012331.1:c.1741A>G , LRG_261t2:c.1741A>G | NP_001012331.1:p.Met581Val | |
| NM_002529.3:c.1759A>G , LRG_261t3:c.1759A>G | NP_002520.2:p.Met587Val | |
| NM_001012331.2:c.1741A>G | NP_001012331.1:p.Met581Val | |
| NM_002529.4:c.1759A>G MANE Select | NP_002520.2:p.Met587Val |