HGVS | Genome Assembly |
---|---|
NC_000016.10:g.81357846C>A , CM000678.2:g.81357846C>A | GRCh38 |
NC_000016.9:g.81391451C>A , CM000678.1:g.81391451C>A | GRCh37 |
NC_000016.8:g.79948952C>A | NCBI36 |
NG_009007.1:g.47881C>A , LRG_242:g.47881C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648349.2:c.*596C>A | ENSP00000498114.1:n.*596C>A | |
ENST00000648994.2:c.888C>A MANE Select | ENSP00000497351.1:p.Cys296Ter | |
ENST00000650388.1:c.422C>A | ENSP00000498081.1:n.422C>A | |
ENST00000568107.2:c.888C>A | ENSP00000476795.1:p.Cys296Ter | |
NM_022041.3:c.888C>A , LRG_242t1:c.888C>A | NP_071324.1:p.Cys296Ter | |
XM_017023734.1:c.249C>A | XP_016879223.1:p.Cys83Ter | |
NM_001377486.1:c.249C>A | NP_001364415.1:p.Cys83Ter | |
NM_022041.4:c.888C>A MANE Select | NP_071324.1:p.Cys296Ter |