HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31598675A>T , CM000680.2:g.31598675A>T | GRCh38 |
NC_000018.9:g.29178638A>T , CM000680.1:g.29178638A>T | GRCh37 |
NC_000018.8:g.27432636A>T | NCBI36 |
NG_009490.1:g.11909A>T , LRG_416:g.11909A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000237014.8:c.444A>T MANE Select | ENSP00000237014.4:p.Ter148Cys | |
ENST00000610404.5:c.348A>T | ENSP00000477599.2:p.Ter116Cys | |
ENST00000649620.1:c.444A>T | ENSP00000497927.1:p.Ter148Cys | |
ENST00000237014.7:c.444A>T | ENSP00000237014.3:p.Ter148Cys | |
ENST00000610404.4:c.558A>T | ENSP00000477599.1:p.Ter186Cys | |
ENST00000613781.1:c.420A>T | ENSP00000479174.1:p.Ter140Cys | |
NM_000371.3:c.444A>T , LRG_416t1:c.444A>T | NP_000362.1:p.Ter148Cys | |
NM_000371.4:c.444A>T MANE Select | NP_000362.1:p.Ter148Cys |