HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229431585A>T , CM000663.2:g.229431585A>T | GRCh38 |
NC_000001.10:g.229567332A>T , CM000663.1:g.229567332A>T | GRCh37 |
NC_000001.9:g.227633955A>T | NCBI36 |
NG_006672.1:g.7512T>A , LRG_429:g.7512T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366683.4:c.991-21T>A | ENSP00000355644.4:n.991-21T>A | |
ENST00000684723.1:c.913T>A | ENSP00000508084.1:p.Ser305Thr | |
ENST00000366683.3:c.679T>A | ENSP00000355644.3:p.Ser227Thr | |
ENST00000366684.7:c.1048T>A MANE Select | ENSP00000355645.3:p.Ser350Thr | |
NM_001100.3:c.1048T>A , LRG_429t1:c.1048T>A | NP_001091.1:p.Ser350Thr | |
NM_001100.4:c.1048T>A MANE Select | NP_001091.1:p.Ser350Thr |