HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24302023T>A , CM000668.2:g.24302023T>A | GRCh38 |
NC_000006.11:g.24302251T>A , CM000668.1:g.24302251T>A | GRCh37 |
NC_000006.10:g.24410230T>A | NCBI36 |
NG_012829.1:g.61030A>T | |
NG_012829.2:g.86270A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378454.8:c.370A>T MANE Select | ENSP00000367715.3:p.Arg124Trp | |
ENST00000378454.7:c.370A>T | ENSP00000367715.3:p.Arg124Trp | |
NM_001195610.1:c.370A>T | NP_001182539.1:p.Arg124Trp | |
NM_016356.4:c.370A>T | NP_057440.2:p.Arg124Trp | |
NM_016356.5:c.370A>T MANE Select | NP_057440.2:p.Arg124Trp | |
NM_001195610.2:c.370A>T | NP_001182539.1:p.Arg124Trp |