HGVS | Genome Assembly |
---|---|
NC_000011.10:g.6319093A>T , CM000673.2:g.6319093A>T | GRCh38 |
NC_000011.9:g.6340323A>T , CM000673.1:g.6340323A>T | GRCh37 |
NC_000011.8:g.6296899A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303927.4:c.*70T>A MANE Select | ENSP00000307292.3:n.*70T>A | |
ENST00000303927.3:c.*70T>A | ENSP00000307292.3:n.*70T>A | |
ENST00000532354.1:n.878T>A | ||
NM_145040.2:c.*70T>A | NP_659477.2:n.*70T>A | |
XR_930997.1:n.720+873A>T | ||
NM_145040.3:c.*70T>A MANE Select | NP_659477.2:n.*70T>A |