HGVS | Genome Assembly |
---|---|
NC_000011.10:g.6319296G= , CM000673.2:g.6319296G= | GRCh38 |
NC_000011.9:g.6340526G= , CM000673.1:g.6340526G= | GRCh37 |
NC_000011.8:g.6297102G= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303927.4:c.653C= MANE Select | ENSP00000307292.3:p.Ala218= | |
ENST00000303927.3:c.653C= | ENSP00000307292.3:p.Ala218= | |
ENST00000524852.1:n.439C= | ||
ENST00000530979.1:c.749C= | ENSP00000432047.1:p.Ala250= | |
ENST00000532354.1:n.675C= | ||
NM_145040.2:c.653C= | NP_659477.2:p.Ala218= | |
XR_930997.1:n.720+1076G= | ||
XR_242848.4:n.156G= | ||
NM_145040.3:c.653C= MANE Select | NP_659477.2:p.Ala218= |