HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31598619C>T , CM000680.2:g.31598619C>T | GRCh38 |
NC_000018.9:g.29178582C>T , CM000680.1:g.29178582C>T | GRCh37 |
NC_000018.8:g.27432580C>T | NCBI36 |
NG_009490.1:g.11853C>T , LRG_416:g.11853C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000237014.8:c.388C>T MANE Select | ENSP00000237014.4:p.Leu130= | |
ENST00000610404.5:c.292C>T | ENSP00000477599.2:p.Leu98= | |
ENST00000649620.1:c.388C>T | ENSP00000497927.1:p.Leu130= | |
ENST00000237014.7:c.388C>T | ENSP00000237014.3:p.Leu130= | |
ENST00000610404.4:c.502C>T | ENSP00000477599.1:p.Leu168= | |
ENST00000613781.1:c.376-12C>T | ENSP00000479174.1:n.376-12C>T | |
NM_000371.3:c.388C>T , LRG_416t1:c.388C>T | NP_000362.1:p.Leu130= | |
NM_000371.4:c.388C>T MANE Select | NP_000362.1:p.Leu130= |