HGVS | Genome Assembly |
---|---|
NC_000022.11:g.45293252C>A , CM000684.2:g.45293252C>A | GRCh38 |
NC_000022.10:g.45689133C>A , CM000684.1:g.45689133C>A | GRCh37 |
NC_000022.9:g.44067797C>A | NCBI36 |
NG_016203.1:g.13266C>A | |
NG_016203.2:g.13266C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216211.9:c.643C>A MANE Select | ENSP00000216211.4:p.Leu215Met | |
ENST00000216211.8:c.643C>A | ENSP00000216211.4:p.Leu215Met | |
ENST00000396082.2:c.280C>A | ENSP00000379391.2:p.Leu94Met | |
NM_001167574.1:c.280C>A | NP_001161046.1:p.Leu94Met | |
NM_006953.3:c.643C>A | NP_008884.1:p.Leu215Met | |
XM_011530364.1:c.649C>A | XP_011528666.1:p.Leu217Met | |
XM_011530365.1:c.286C>A | XP_011528667.1:p.Leu96Met | |
NM_006953.4:c.643C>A MANE Select | NP_008884.1:p.Leu215Met | |
NM_001167574.2:c.280C>A | NP_001161046.1:p.Leu94Met |