HGVS | Genome Assembly |
---|---|
NC_000010.11:g.92637522A>T , CM000672.2:g.92637522A>T | GRCh38 |
NC_000010.10:g.94397279A>T , CM000672.1:g.94397279A>T | GRCh37 |
NC_000010.9:g.94387259A>T | NCBI36 |
NG_032580.1:g.49455A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260731.5:c.2137A>T MANE Select | ENSP00000260731.3:p.Thr713Ser | |
ENST00000676621.1:c.*655A>T | ENSP00000503639.1:n.*655A>T | |
ENST00000676647.1:c.1930A>T | ENSP00000503394.1:p.Thr644Ser | |
ENST00000676757.1:c.1930A>T | ENSP00000504289.1:p.Thr644Ser | |
ENST00000677720.1:c.*111A>T | ENSP00000504840.1:n.*111A>T | |
ENST00000260731.4:c.2137A>T | ENSP00000260731.3:p.Thr713Ser | |
NM_004523.3:c.2137A>T | NP_004514.2:p.Thr713Ser | |
NM_004523.4:c.2137A>T MANE Select | NP_004514.2:p.Thr713Ser |