HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229432084T>A , CM000663.2:g.229432084T>A | GRCh38 |
NC_000001.10:g.229567831T>A , CM000663.1:g.229567831T>A | GRCh37 |
NC_000001.9:g.227634454T>A | NCBI36 |
NG_006672.1:g.7013A>T , LRG_429:g.7013A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366683.4:c.718A>T | ENSP00000355644.4:p.Lys240Ter | |
ENST00000684723.1:c.583A>T | ENSP00000508084.1:p.Lys195Ter | |
ENST00000366683.3:c.480-222A>T | ENSP00000355644.3:n.480-222A>T | |
ENST00000366684.7:c.718A>T MANE Select | ENSP00000355645.3:p.Lys240Ter | |
NM_001100.3:c.718A>T , LRG_429t1:c.718A>T | NP_001091.1:p.Lys240Ter | |
NM_001100.4:c.718A>T MANE Select | NP_001091.1:p.Lys240Ter |