HGVS | Genome Assembly |
---|---|
NC_000010.11:g.92645551G= , CM000672.2:g.92645551G= | GRCh38 |
NC_000010.10:g.94405308G= , CM000672.1:g.94405308G= | GRCh37 |
NC_000010.9:g.94395288G= | NCBI36 |
NG_032580.1:g.57484G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260731.5:c.2456G= MANE Select | ENSP00000260731.3:p.Cys819= | |
ENST00000676621.1:c.*974G= | ENSP00000503639.1:n.*974G= | |
ENST00000676647.1:c.2249G= | ENSP00000503394.1:p.Cys750= | |
ENST00000676757.1:c.2249G= | ENSP00000504289.1:p.Cys750= | |
ENST00000677720.1:c.*430G= | ENSP00000504840.1:n.*430G= | |
ENST00000260731.4:c.2456G= | ENSP00000260731.3:p.Cys819= | |
NM_004523.3:c.2456G= | NP_004514.2:p.Cys819= | |
NM_004523.4:c.2456G= MANE Select | NP_004514.2:p.Cys819= |