Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675829T>G , CM000685.2:g.38675829T>G | GRCh38 |
| NC_000023.10:g.38535083T>G , CM000685.1:g.38535083T>G | GRCh37 |
| NC_000023.9:g.38420027T>G | NCBI36 |
| NG_009160.1:g.119353T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.566T>G MANE Select | ENSP00000367743.2:p.Leu189Arg | |
| ENST00000286824.6:c.617T>G | ENSP00000286824.6:p.Leu206Arg | |
| ENST00000378482.6:c.566T>G | ENSP00000367743.2:p.Leu189Arg | |
| ENST00000419600.3:n.510T>G | ||
| ENST00000465127.1:c.656T>G | ENSP00000417050.1:p.Leu219Arg | |
| ENST00000471410.5:c.*592T>G | ENSP00000419290.1:n.*592T>G | |
| ENST00000475216.5:c.*559T>G | ENSP00000418586.1:n.*559T>G | |
| NM_004615.3:c.566T>G | NP_004606.2:p.Leu189Arg | |
| NM_004615.4:c.566T>G MANE Select | NP_004606.2:p.Leu189Arg |