HGVS | Genome Assembly |
---|---|
NC_000020.11:g.33850975T>A , CM000682.2:g.33850975T>A | GRCh38 |
NC_000020.10:g.32438781T>A , CM000682.1:g.32438781T>A | GRCh37 |
NC_000020.9:g.31902442T>A | NCBI36 |
NG_015820.1:g.44672T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000217402.3:c.392T>A MANE Select | ENSP00000217402.2:p.Leu131Ter | |
ENST00000217402.2:c.392T>A | ENSP00000217402.2:p.Leu131Ter | |
NM_176812.4:c.392T>A | NP_789782.1:p.Leu131Ter | |
NM_176812.5:c.392T>A MANE Select | NP_789782.1:p.Leu131Ter |