HGVS | Genome Assembly |
---|---|
NC_000014.9:g.93218619C>T , CM000676.2:g.93218619C>T | GRCh38 |
NC_000014.8:g.93684965C>T , CM000676.1:g.93684965C>T | GRCh37 |
NC_000014.7:g.92754718C>T | NCBI36 |
NG_051089.1:g.16564C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000013070.11:c.694C>T MANE Select | ENSP00000013070.6:p.Gln232Ter | |
ENST00000013070.10:c.694C>T | ENSP00000013070.6:p.Gln232Ter | |
ENST00000416753.5:c.466C>T | ENSP00000391706.2:p.Gln156Ter | |
ENST00000553674.1:c.*395C>T | ENSP00000450470.1:n.*395C>T | |
ENST00000553857.5:c.378+3338C>T | ||
ENST00000556871.5:c.403C>T | ENSP00000451022.1:p.Gln135Ter | |
NM_175748.3:c.694C>T | NP_786924.2:p.Gln232Ter | |
NR_038150.1:n.796C>T | ||
NM_175748.4:c.694C>T MANE Select | NP_786924.2:p.Gln232Ter | |
NR_038150.2:n.596C>T |