Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154103A>C , CM000681.2:g.55154103A>C | GRCh38 |
| NC_000019.9:g.55665471A>C , CM000681.1:g.55665471A>C | GRCh37 |
| NC_000019.8:g.60357283A>C | NCBI36 |
| NG_007866.2:g.8630T>G , LRG_432:g.8630T>G | |
| NG_011829.2:g.136T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.476T>G MANE Select | ENSP00000341838.5:p.Leu159Arg | |
| ENST00000665070.1:c.509T>G | ENSP00000499482.1:p.Leu170Arg | |
| ENST00000344887.9:c.476T>G | ENSP00000341838.5:p.Leu159Arg | |
| ENST00000585806.5:n.475T>G | ||
| ENST00000588882.1:c.401T>G | ENSP00000466729.1:p.Leu134Arg | |
| ENST00000589864.1:n.304T>G | ||
| NM_000363.4:c.476T>G , LRG_432t1:c.476T>G | NP_000354.4:p.Leu159Arg | |
| NM_000363.5:c.476T>G MANE Select | NP_000354.4:p.Leu159Arg |