Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675820T>G , CM000685.2:g.38675820T>G | GRCh38 |
| NC_000023.10:g.38535074T>G , CM000685.1:g.38535074T>G | GRCh37 |
| NC_000023.9:g.38420018T>G | NCBI36 |
| NG_009160.1:g.119344T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.557T>G MANE Select | ENSP00000367743.2:p.Leu186Arg | |
| ENST00000286824.6:c.608T>G | ENSP00000286824.6:p.Leu203Arg | |
| ENST00000378482.6:c.557T>G | ENSP00000367743.2:p.Leu186Arg | |
| ENST00000419600.3:n.501T>G | ||
| ENST00000465127.1:c.647T>G | ENSP00000417050.1:p.Leu216Arg | |
| ENST00000471410.5:c.*583T>G | ENSP00000419290.1:n.*583T>G | |
| ENST00000475216.5:c.*550T>G | ENSP00000418586.1:n.*550T>G | |
| NM_004615.3:c.557T>G | NP_004606.2:p.Leu186Arg | |
| NM_004615.4:c.557T>G MANE Select | NP_004606.2:p.Leu186Arg |