HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31598620T>G , CM000680.2:g.31598620T>G | GRCh38 |
NC_000018.9:g.29178583T>G , CM000680.1:g.29178583T>G | GRCh37 |
NC_000018.8:g.27432581T>G | NCBI36 |
NG_009490.1:g.11854T>G , LRG_416:g.11854T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000237014.8:c.389T>G MANE Select | ENSP00000237014.4:p.Leu130Arg | |
ENST00000610404.5:c.293T>G | ENSP00000477599.2:p.Leu98Arg | |
ENST00000649620.1:c.389T>G | ENSP00000497927.1:p.Leu130Arg | |
ENST00000237014.7:c.389T>G | ENSP00000237014.3:p.Leu130Arg | |
ENST00000610404.4:c.503T>G | ENSP00000477599.1:p.Leu168Arg | |
ENST00000613781.1:c.376-11T>G | ENSP00000479174.1:n.376-11T>G | |
NM_000371.3:c.389T>G , LRG_416t1:c.389T>G | NP_000362.1:p.Leu130Arg | |
NM_000371.4:c.389T>G MANE Select | NP_000362.1:p.Leu130Arg |