HGVS | Genome Assembly |
---|---|
NC_000021.9:g.46001331C>T , CM000683.2:g.46001331C>T | GRCh38 |
NC_000021.8:g.47421245C>T , CM000683.1:g.47421245C>T | GRCh37 |
NC_000021.7:g.46245673C>T | NCBI36 |
NG_008674.1:g.24583C>T , LRG_475:g.24583C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463060.6:n.300C>T | ||
ENST00000612273.2:c.27C>T | ||
ENST00000682634.1:c.27C>T | ||
ENST00000361866.8:c.1901C>T MANE Select | ENSP00000355180.3:p.Ala634Val | |
ENST00000361866.7:c.1901C>T | ENSP00000355180.3:p.Ala634Val | |
ENST00000463060.5:n.300C>T | ||
ENST00000498614.5:n.135C>T | ||
ENST00000612273.1:c.1895C>T | ENSP00000483630.1:p.Ala632Val | |
NM_001848.2:c.1901C>T , LRG_475t1:c.1901C>T | NP_001839.2:p.Ala634Val | |
NM_001848.3:c.1901C>T MANE Select | NP_001839.2:p.Ala634Val |