HGVS | Genome Assembly |
---|---|
NC_000010.11:g.92645526A= , CM000672.2:g.92645526A= | GRCh38 |
NC_000010.10:g.94405283A= , CM000672.1:g.94405283A= | GRCh37 |
NC_000010.9:g.94395263A= | NCBI36 |
NG_032580.1:g.57459A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260731.5:c.2431A= MANE Select | ENSP00000260731.3:p.Ile811= | |
ENST00000676621.1:c.*949A= | ENSP00000503639.1:n.*949A= | |
ENST00000676647.1:c.2224A= | ENSP00000503394.1:p.Ile742= | |
ENST00000676757.1:c.2224A= | ENSP00000504289.1:p.Ile742= | |
ENST00000677720.1:c.*405A= | ENSP00000504840.1:n.*405A= | |
ENST00000260731.4:c.2431A= | ENSP00000260731.3:p.Ile811= | |
NM_004523.3:c.2431A= | NP_004514.2:p.Ile811= | |
NM_004523.4:c.2431A= MANE Select | NP_004514.2:p.Ile811= |