HGVS | Genome Assembly |
---|---|
NC_000022.11:g.41160651C>T , CM000684.2:g.41160651C>T | GRCh38 |
NC_000022.10:g.41556655C>T , CM000684.1:g.41556655C>T | GRCh37 |
NC_000022.9:g.39886601C>T | NCBI36 |
NG_009817.1:g.73042C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703544.1:c.*1520C>T | ENSP00000515365.1:n.*1520C>T | |
ENST00000263253.9:c.3600C>T MANE Select | ENSP00000263253.7:p.Phe1200= | |
ENST00000674155.1:c.3522C>T | ENSP00000501078.1:p.Phe1174= | |
ENST00000263253.8:c.3600C>T | ENSP00000263253.7:p.Phe1200= | |
NM_001429.3:c.3600C>T | NP_001420.2:p.Phe1200= | |
XM_006724165.2:c.3522C>T | XP_006724228.1:p.Phe1174= | |
NM_001362843.1:c.3522C>T | NP_001349772.1:p.Phe1174= | |
NM_001429.4:c.3600C>T MANE Select | NP_001420.2:p.Phe1200= | |
NM_001362843.2:c.3522C>T | NP_001349772.1:p.Phe1174= |