HGVS | Genome Assembly |
---|---|
NC_000001.11:g.100539843T>A , CM000663.2:g.100539843T>A | GRCh38 |
NC_000001.10:g.101005399T>A , CM000663.1:g.101005399T>A | GRCh37 |
NC_000001.9:g.100777987T>A | NCBI36 |
NG_053134.1:g.6672T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000315033.5:c.877T>A MANE Select | ENSP00000314223.4:p.Phe293Ile | |
ENST00000315033.4:c.877T>A | ENSP00000314223.4:p.Phe293Ile | |
NM_022049.2:c.877T>A | NP_071332.2:p.Phe293Ile | |
NM_022049.3:c.877T>A MANE Select | NP_071332.2:p.Phe293Ile |