HGVS | Genome Assembly |
---|---|
NC_000010.11:g.92637549T= , CM000672.2:g.92637549T= | GRCh38 |
NC_000010.10:g.94397306T= , CM000672.1:g.94397306T= | GRCh37 |
NC_000010.9:g.94387286T= | NCBI36 |
NG_032580.1:g.49482T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260731.5:c.2160+4T= MANE Select | ENSP00000260731.3:n.2160+4T= | |
ENST00000676621.1:c.*678+4T= | ENSP00000503639.1:n.*678+4T= | |
ENST00000676647.1:c.1953+4T= | ENSP00000503394.1:n.1953+4T= | |
ENST00000676757.1:c.1953+4T= | ENSP00000504289.1:n.1953+4T= | |
ENST00000677720.1:c.*134+4T= | ENSP00000504840.1:n.*134+4T= | |
ENST00000260731.4:c.2160+4T= | ENSP00000260731.3:n.2160+4T= | |
NM_004523.3:c.2160+4T= | NP_004514.2:n.2160+4T= | |
NM_004523.4:c.2160+4T= MANE Select | NP_004514.2:n.2160+4T= |