HGVS | Genome Assembly |
---|---|
NC_000005.10:g.146340232T>A , CM000667.2:g.146340232T>A | GRCh38 |
NC_000005.9:g.145719795T>A , CM000667.1:g.145719795T>A | GRCh37 |
NC_000005.8:g.145699988T>A | NCBI36 |
NG_011885.1:g.6209T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000646991.2:c.805T>A MANE Select | ENSP00000495718.1:p.Phe269Ile | |
ENST00000230732.4:c.805T>A | ENSP00000230732.4:p.Phe269Ile | |
NM_002700.2:c.805T>A | NP_002691.1:p.Phe269Ile | |
NM_002700.3:c.805T>A MANE Select | NP_002691.1:p.Phe269Ile |