HGVS | Genome Assembly |
---|---|
NC_000010.11:g.92637539T>C , CM000672.2:g.92637539T>C | GRCh38 |
NC_000010.10:g.94397296T>C , CM000672.1:g.94397296T>C | GRCh37 |
NC_000010.9:g.94387276T>C | NCBI36 |
NG_032580.1:g.49472T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260731.5:c.2154T>C MANE Select | ENSP00000260731.3:p.His718= | |
ENST00000676621.1:c.*672T>C | ENSP00000503639.1:n.*672T>C | |
ENST00000676647.1:c.1947T>C | ENSP00000503394.1:p.His649= | |
ENST00000676757.1:c.1947T>C | ENSP00000504289.1:p.His649= | |
ENST00000677720.1:c.*128T>C | ENSP00000504840.1:n.*128T>C | |
ENST00000260731.4:c.2154T>C | ENSP00000260731.3:p.His718= | |
NM_004523.3:c.2154T>C | NP_004514.2:p.His718= | |
NM_004523.4:c.2154T>C MANE Select | NP_004514.2:p.His718= |