HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48483877T>A , CM000677.2:g.48483877T>A | GRCh38 |
NC_000015.9:g.48776074T>A , CM000677.1:g.48776074T>A | GRCh37 |
NC_000015.8:g.46563366T>A | NCBI36 |
NG_008805.2:g.166912A>T , LRG_778:g.166912A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000559133.6:c.3779A>T | ENSP00000453958.2:p.Glu1260Val | |
ENST00000674301.2:c.3779A>T | ENSP00000501333.2:p.Glu1260Val | |
ENST00000684448.1:n.2453A>T | ||
ENST00000316623.10:c.3779A>T MANE Select | ENSP00000325527.5:p.Glu1260Val | |
ENST00000316623.9:c.3779A>T | ENSP00000325527.5:p.Glu1260Val | |
ENST00000537463.6:c.637-9227A>T | ENSP00000440294.2:n.637-9227A>T | |
NM_000138.4:c.3779A>T , LRG_778t1:c.3779A>T | NP_000129.3:p.Glu1260Val | |
NM_000138.5:c.3779A>T MANE Select | NP_000129.3:p.Glu1260Val |