HGVS | Genome Assembly |
---|---|
NC_000017.11:g.40555417G>T , CM000679.2:g.40555417G>T | GRCh38 |
NC_000017.10:g.38711669G>T , CM000679.1:g.38711669G>T | GRCh37 |
NC_000017.9:g.35965195G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000246657.2:c.462C>A MANE Select | ENSP00000246657.2:p.Arg154= | |
ENST00000578085.1:c.273C>A | ENSP00000463075.1:p.Arg91= | |
ENST00000579344.1:c.444C>A | ENSP00000462631.1:p.Arg148= | |
NM_001301714.1:c.273C>A | NP_001288643.1:p.Arg91= | |
NM_001301716.1:c.444C>A | NP_001288645.1:p.Arg148= | |
NM_001301717.1:c.444C>A | NP_001288646.1:p.Arg148= | |
NM_001301718.1:c.444C>A | NP_001288647.1:p.Arg148= | |
NM_001838.3:c.462C>A | NP_001829.1:p.Arg154= | |
NM_001838.4:c.462C>A MANE Select | NP_001829.1:p.Arg154= | |
NM_001301714.2:c.273C>A | NP_001288643.1:p.Arg91= | |
NM_001301716.2:c.444C>A | NP_001288645.1:p.Arg148= | |
NM_001301717.2:c.444C>A | NP_001288646.1:p.Arg148= | |
NM_001301718.2:c.444C>A | NP_001288647.1:p.Arg148= |