HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37715891C>A , CM000684.2:g.37715891C>A | GRCh38 |
NC_000022.10:g.38111898C>A , CM000684.1:g.38111898C>A | GRCh37 |
NC_000022.9:g.36441844C>A | NCBI36 |
NG_012857.1:g.23904C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000644935.1:c.585C>A MANE Select | ENSP00000496394.1:p.Thr195= | |
ENST00000344404.10:c.*68C>A | ENSP00000340312.6:n.*68C>A | |
ENST00000406386.7:c.585C>A | ENSP00000384312.3:p.Thr195= | |
ENST00000455236.4:c.1542C>A | ENSP00000477208.1:n.1542C>A | |
ENST00000492485.5:n.519C>A | ||
NM_001039141.2:c.585C>A | NP_001034230.1:p.Thr195= | |
NM_001039141.3:c.585C>A MANE Select | NP_001034230.1:p.Thr195= |