HGVS | Genome Assembly |
---|---|
NC_000005.10:g.146339572T>A , CM000667.2:g.146339572T>A | GRCh38 |
NC_000005.9:g.145719135T>A , CM000667.1:g.145719135T>A | GRCh37 |
NC_000005.8:g.145699328T>A | NCBI36 |
NG_011885.1:g.5549T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000646991.2:c.145T>A MANE Select | ENSP00000495718.1:p.Phe49Ile | |
ENST00000230732.4:c.145T>A | ENSP00000230732.4:p.Phe49Ile | |
NM_002700.2:c.145T>A | NP_002691.1:p.Phe49Ile | |
NM_002700.3:c.145T>A MANE Select | NP_002691.1:p.Phe49Ile |