HGVS | Genome Assembly |
---|---|
NC_000003.12:g.81670865T>A , CM000665.2:g.81670865T>A | GRCh38 |
NC_000003.11:g.81720016T>A , CM000665.1:g.81720016T>A | GRCh37 |
NC_000003.10:g.81802706T>A | NCBI36 |
NG_011810.1:g.95936A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000429644.7:c.402A>T MANE Select | ENSP00000410833.2:p.Val134= | |
ENST00000429644.6:c.402A>T | ENSP00000410833.2:p.Val134= | |
ENST00000477426.1:n.118A>T | ||
ENST00000489715.1:c.279A>T | ENSP00000419638.1:p.Val93= | |
NM_000158.3:c.402A>T | NP_000149.3:p.Val134= | |
NM_000158.4:c.402A>T MANE Select | NP_000149.4:p.Val134= |