HGVS | Genome Assembly |
---|---|
NC_000009.12:g.12695548A>T , CM000671.2:g.12695548A>T | GRCh38 |
NC_000009.11:g.12695548A>T , CM000671.1:g.12695548A>T | GRCh37 |
NC_000009.10:g.12685548A>T | NCBI36 |
NG_011705.1:g.7163A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000388918.10:c.419A>T MANE Select | ENSP00000373570.4:p.Glu140Val | |
ENST00000388918.9:c.419A>T | ENSP00000373570.4:p.Glu140Val | |
NM_000550.2:c.419A>T | NP_000541.1:p.Glu140Val | |
XR_001746372.2:n.608A>T | ||
NM_000550.3:c.419A>T MANE Select | NP_000541.1:p.Glu140Val |