HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94981208T>A , CM000672.2:g.94981208T>A | GRCh38 |
NC_000010.10:g.96740965T>A , CM000672.1:g.96740965T>A | GRCh37 |
NC_000010.9:g.96730955T>A | NCBI36 |
NG_008385.1:g.47551T>A | |
NG_008385.2:g.48051T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260682.8:c.987T>A MANE Select | ENSP00000260682.6:p.Arg329= | |
ENST00000643112.1:c.845T>A | ENSP00000496202.1:p.Val282Glu | |
ENST00000260682.6:c.987T>A | ENSP00000260682.6:p.Arg329= | |
NM_000771.3:c.987T>A | NP_000762.2:p.Arg329= | |
NM_000771.4:c.987T>A MANE Select | NP_000762.2:p.Arg329= |