HGVS | Genome Assembly |
---|---|
NC_000013.11:g.52397876T>A , CM000675.2:g.52397876T>A | GRCh38 |
NC_000013.10:g.52972011T>A , CM000675.1:g.52972011T>A | GRCh37 |
NC_000013.9:g.51870012T>A | NCBI36 |
NG_047168.1:g.13619A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258613.5:c.377A>T MANE Select | ENSP00000258613.4:p.Glu126Val | |
ENST00000648254.1:c.377A>T | ENSP00000497520.1:p.Glu126Val | |
ENST00000258613.4:c.377A>T | ENSP00000258613.4:p.Glu126Val | |
ENST00000349258.8:c.377A>T | ENSP00000340650.4:p.Glu126Val | |
NM_018676.3:c.377A>T | NP_061146.1:p.Glu126Val | |
NM_199263.2:c.377A>T | NP_954872.1:p.Glu126Val | |
NM_018676.4:c.377A>T MANE Select | NP_061146.1:p.Glu126Val | |
NM_199263.3:c.377A>T | NP_954872.1:p.Glu126Val |