HGVS | Genome Assembly |
---|---|
NC_000017.11:g.75758007A= , CM000679.2:g.75758007A= | GRCh38 |
NC_000017.10:g.73754088A= , CM000679.1:g.73754088A= | GRCh37 |
NC_000017.9:g.71265683A= | NCBI36 |
NG_007372.1:g.41573A= | |
NG_008079.1:g.12193T= | |
NG_008079.2:g.12193T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000592997.6:c.1138T= | ENSP00000464765.2:n.1138T= | |
ENST00000588479.6:c.*49T= MANE Select | ENSP00000465930.1:n.*49T= | |
ENST00000225614.6:c.*22+27T= | ENSP00000225614.1:n.*22+27T= | |
ENST00000586733.1:n.430T= | ||
ENST00000588479.5:c.*49T= | ENSP00000465930.1:n.*49T= | |
ENST00000589643.1:n.254+27T= | ||
ENST00000592997.5:c.604T= | ENSP00000464765.1:n.604T= | |
NM_000154.1:c.*49T= | NP_000145.1:n.*49T= | |
NM_000154.2:c.*49T= MANE Select | NP_000145.1:n.*49T= | |
NM_001381985.1:c.*22+27T= | NP_001368914.1:n.*22+27T= |