HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94981198A>T , CM000672.2:g.94981198A>T | GRCh38 |
NC_000010.10:g.96740955A>T , CM000672.1:g.96740955A>T | GRCh37 |
NC_000010.9:g.96730945A>T | NCBI36 |
NG_008385.1:g.47541A>T | |
NG_008385.2:g.48041A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260682.8:c.977A>T MANE Select | ENSP00000260682.6:p.Glu326Val | |
ENST00000643112.1:c.835A>T | ENSP00000496202.1:p.Arg279Ter | |
ENST00000260682.6:c.977A>T | ENSP00000260682.6:p.Glu326Val | |
NM_000771.3:c.977A>T | NP_000762.2:p.Glu326Val | |
NM_000771.4:c.977A>T MANE Select | NP_000762.2:p.Glu326Val |