HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229432090G>A , CM000663.2:g.229432090G>A | GRCh38 |
NC_000001.10:g.229567837G>A , CM000663.1:g.229567837G>A | GRCh37 |
NC_000001.9:g.227634460G>A | NCBI36 |
NG_006672.1:g.7007C>T , LRG_429:g.7007C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000366683.4:c.712C>T | ENSP00000355644.4:p.Leu238= | |
ENST00000684723.1:c.577C>T | ENSP00000508084.1:p.Leu193= | |
ENST00000366683.3:c.480-228C>T | ENSP00000355644.3:n.480-228C>T | |
ENST00000366684.7:c.712C>T MANE Select | ENSP00000355645.3:p.Leu238= | |
NM_001100.3:c.712C>T , LRG_429t1:c.712C>T | NP_001091.1:p.Leu238= | |
NM_001100.4:c.712C>T MANE Select | NP_001091.1:p.Leu238= |