HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31595164A>T , CM000680.2:g.31595164A>T | GRCh38 |
NC_000018.9:g.29175127A>T , CM000680.1:g.29175127A>T | GRCh37 |
NC_000018.8:g.27429125A>T | NCBI36 |
NG_009490.1:g.8398A>T , LRG_416:g.8398A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000237014.8:c.245A>T MANE Select | ENSP00000237014.4:p.Glu82Val | |
ENST00000610404.5:c.149A>T | ENSP00000477599.2:p.Glu50Val | |
ENST00000649620.1:c.245A>T | ENSP00000497927.1:p.Glu82Val | |
ENST00000237014.7:c.245A>T | ENSP00000237014.3:p.Glu82Val | |
ENST00000541025.2:n.271A>T | ||
ENST00000610404.4:c.245A>T | ENSP00000477599.1:p.Glu82Val | |
ENST00000613781.1:c.245A>T | ENSP00000479174.1:p.Glu82Val | |
NM_000371.3:c.245A>T , LRG_416t1:c.245A>T | NP_000362.1:p.Glu82Val | |
NM_000371.4:c.245A>T MANE Select | NP_000362.1:p.Glu82Val |