HGVS | Genome Assembly |
---|---|
NC_000014.9:g.93218641A>T , CM000676.2:g.93218641A>T | GRCh38 |
NC_000014.8:g.93684987A>T , CM000676.1:g.93684987A>T | GRCh37 |
NC_000014.7:g.92754740A>T | NCBI36 |
NG_051089.1:g.16586A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000013070.11:c.716A>T MANE Select | ENSP00000013070.6:p.Asp239Val | |
ENST00000013070.10:c.716A>T | ENSP00000013070.6:p.Asp239Val | |
ENST00000416753.5:c.488A>T | ENSP00000391706.2:p.Asp163Val | |
ENST00000553674.1:c.*417A>T | ENSP00000450470.1:n.*417A>T | |
ENST00000553857.5:c.378+3360A>T | ||
ENST00000556871.5:c.425A>T | ENSP00000451022.1:p.Asp142Val | |
NM_175748.3:c.716A>T | NP_786924.2:p.Asp239Val | |
NR_038150.1:n.818A>T | ||
NM_175748.4:c.716A>T MANE Select | NP_786924.2:p.Asp239Val | |
NR_038150.2:n.618A>T |