HGVS | Genome Assembly |
---|---|
NC_000021.9:g.46001338C= , CM000683.2:g.46001338C= | GRCh38 |
NC_000021.8:g.47421252C= , CM000683.1:g.47421252C= | GRCh37 |
NC_000021.7:g.46245680C= | NCBI36 |
NG_008674.1:g.24590C= , LRG_475:g.24590C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463060.6:n.307C= | ||
ENST00000612273.2:c.34C= | ||
ENST00000682634.1:c.34C= | ||
ENST00000361866.8:c.1908C= MANE Select | ENSP00000355180.3:p.Asp636= | |
ENST00000361866.7:c.1908C= | ENSP00000355180.3:p.Asp636= | |
ENST00000463060.5:n.307C= | ||
ENST00000498614.5:n.142C= | ||
ENST00000612273.1:c.1902C= | ENSP00000483630.1:p.Asp634= | |
NM_001848.2:c.1908C= , LRG_475t1:c.1908C= | NP_001839.2:p.Asp636= | |
NM_001848.3:c.1908C= MANE Select | NP_001839.2:p.Asp636= |