HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23396354T>A , CM000676.2:g.23396354T>A | GRCh38 |
NC_000014.8:g.23865563T>A , CM000676.1:g.23865563T>A | GRCh37 |
NC_000014.7:g.22935403T>A | NCBI36 |
NG_023444.1:g.16924A>T , LRG_389:g.16924A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000405093.9:c.2359A>T MANE Select | ENSP00000386041.3:p.Ile787Phe | |
ENST00000356287.3:c.2359A>T | ENSP00000348634.3:p.Ile787Phe | |
ENST00000405093.7:c.2359A>T | ENSP00000386041.3:p.Ile787Phe | |
NM_002471.3:c.2359A>T , LRG_389t1:c.2359A>T | NP_002462.2:p.Ile787Phe | |
NM_002471.4:c.2359A>T MANE Select | NP_002462.2:p.Ile787Phe |