HGVS | Genome Assembly |
---|---|
NC_000010.11:g.92637517T>A , CM000672.2:g.92637517T>A | GRCh38 |
NC_000010.10:g.94397274T>A , CM000672.1:g.94397274T>A | GRCh37 |
NC_000010.9:g.94387254T>A | NCBI36 |
NG_032580.1:g.49450T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260731.5:c.2132T>A MANE Select | ENSP00000260731.3:p.Leu711Gln | |
ENST00000676621.1:c.*650T>A | ENSP00000503639.1:n.*650T>A | |
ENST00000676647.1:c.1925T>A | ENSP00000503394.1:p.Leu642Gln | |
ENST00000676757.1:c.1925T>A | ENSP00000504289.1:p.Leu642Gln | |
ENST00000677720.1:c.*106T>A | ENSP00000504840.1:n.*106T>A | |
ENST00000260731.4:c.2132T>A | ENSP00000260731.3:p.Leu711Gln | |
NM_004523.3:c.2132T>A | NP_004514.2:p.Leu711Gln | |
NM_004523.4:c.2132T>A MANE Select | NP_004514.2:p.Leu711Gln |