HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232484473G>A , CM000664.2:g.232484473G>A | GRCh38 |
NC_000002.11:g.233349183G>A , CM000664.1:g.233349183G>A | GRCh37 |
NC_000002.10:g.233057427G>A | NCBI36 |
NG_034065.1:g.8387C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000304546.6:c.1183C>T MANE Select | ENSP00000302051.1:p.Arg395Trp | |
ENST00000304546.5:c.1183C>T | ENSP00000302051.1:p.Arg395Trp | |
ENST00000409941.1:c.1183C>T | ENSP00000386333.1:p.Arg395Trp | |
ENST00000482346.1:n.1494C>T | ||
NM_001290787.1:c.1183C>T | NP_001277716.1:p.Arg395Trp | |
NM_004826.3:c.1183C>T | NP_004817.2:p.Arg395Trp | |
NM_004826.4:c.1183C>T MANE Select | NP_004817.2:p.Arg395Trp | |
NM_001290787.2:c.1183C>T | NP_001277716.1:p.Arg395Trp |