HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229432940T= , CM000663.2:g.229432940T= | GRCh38 |
NC_000001.10:g.229568687T= , CM000663.1:g.229568687T= | GRCh37 |
NC_000001.9:g.227635310T= | NCBI36 |
NG_006672.1:g.6157A= , LRG_429:g.6157A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366683.4:c.129+47A= | ENSP00000355644.4:n.129+47A= | |
ENST00000684723.1:c.-6-60A= | ENSP00000508084.1:n.-6-60A= | |
ENST00000366683.3:c.129+47A= | ENSP00000355644.3:n.129+47A= | |
ENST00000366684.7:c.129+47A= MANE Select | ENSP00000355645.3:n.129+47A= | |
NM_001100.3:c.129+47A= , LRG_429t1:c.129+47A= | NP_001091.1:n.129+47A= | |
NM_001100.4:c.129+47A= MANE Select | NP_001091.1:n.129+47A= |