HGVS | Genome Assembly |
---|---|
NC_000010.11:g.133532184T= , CM000672.2:g.133532184T= | GRCh38 |
NC_000010.10:g.135345688T= , CM000672.1:g.135345688T= | GRCh37 |
NC_000010.9:g.135195678T= | NCBI36 |
NG_008383.1:g.9822T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252945.8:c.548T= MANE Select | ENSP00000252945.3:p.Ile183= | |
ENST00000252945.7:c.548T= | ENSP00000252945.3:p.Ile183= | |
ENST00000368520.1:n.609T= | ||
ENST00000418356.1:c.137T= | ENSP00000397299.1:p.Ile46= | |
ENST00000421586.5:c.287T= | ENSP00000412754.1:p.Ile96= | |
ENST00000463117.6:c.548T= | ENSP00000440689.1:p.Ile183= | |
ENST00000477500.5:n.448+450T= | ||
ENST00000541080.5:c.226+450T= | ||
NM_000773.3:c.548T= | NP_000764.1:p.Ile183= | |
NM_000773.4:c.548T= MANE Select | NP_000764.1:p.Ile183= |