HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107920611C>A , CM000669.2:g.107920611C>A | GRCh38 |
NC_000007.13:g.107561056C>A , CM000669.1:g.107561056C>A | GRCh37 |
NC_000007.12:g.107348292C>A | NCBI36 |
NG_008045.1:g.34471C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000205402.10:c.*1352C>A MANE Select | ENSP00000205402.3:n.*1352C>A | |
ENST00000205402.9:c.*1352C>A | ENSP00000205402.3:n.*1352C>A | |
ENST00000417551.5:c.*124+1228C>A | ENSP00000390667.1:n.*124+1228C>A | |
NM_000108.4:c.*1352C>A | NP_000099.2:n.*1352C>A | |
NM_001289750.1:c.*1352C>A | NP_001276679.1:n.*1352C>A | |
NM_001289751.1:c.*1352C>A | NP_001276680.1:n.*1352C>A | |
NM_001289752.1:c.*1352C>A | NP_001276681.1:n.*1352C>A | |
NM_000108.5:c.*1352C>A MANE Select | NP_000099.2:n.*1352C>A |