HGVS | Genome Assembly |
---|---|
NC_000022.11:g.41160710C= , CM000684.2:g.41160710C= | GRCh38 |
NC_000022.10:g.41556714C= , CM000684.1:g.41556714C= | GRCh37 |
NC_000022.9:g.39886660C= | NCBI36 |
NG_009817.1:g.73101C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000703544.1:c.*1579C= | ENSP00000515365.1:n.*1579C= | |
ENST00000263253.9:c.3659C= MANE Select | ENSP00000263253.7:p.Ser1220= | |
ENST00000674155.1:c.3581C= | ENSP00000501078.1:p.Ser1194= | |
ENST00000263253.8:c.3659C= | ENSP00000263253.7:p.Ser1220= | |
NM_001429.3:c.3659C= | NP_001420.2:p.Ser1220= | |
XM_006724165.2:c.3581C= | XP_006724228.1:p.Ser1194= | |
NM_001362843.1:c.3581C= | NP_001349772.1:p.Ser1194= | |
NM_001429.4:c.3659C= MANE Select | NP_001420.2:p.Ser1220= | |
NM_001362843.2:c.3581C= | NP_001349772.1:p.Ser1194= |