HGVS | Genome Assembly |
---|---|
NC_000011.10:g.68794880T>A , CM000673.2:g.68794880T>A | GRCh38 |
NC_000011.9:g.68562348T>A , CM000673.1:g.68562348T>A | GRCh37 |
NC_000011.8:g.68318924T>A | NCBI36 |
NG_011801.1:g.52052A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265641.10:c.803A>T MANE Select | ENSP00000265641.4:p.Gln268Leu | |
ENST00000265641.9:c.803A>T | ENSP00000265641.4:p.Gln268Leu | |
ENST00000376618.6:c.803A>T | ENSP00000365803.2:p.Gln268Leu | |
ENST00000538994.1:c.59A>T | ENSP00000454332.1:p.Gln20Leu | |
ENST00000539743.5:c.803A>T | ENSP00000446108.1:p.Gln268Leu | |
ENST00000540367.5:c.803A>T | ENSP00000439084.1:p.Gln268Leu | |
NM_001031847.2:c.803A>T | NP_001027017.1:p.Gln268Leu | |
NM_001876.3:c.803A>T | NP_001867.2:p.Gln268Leu | |
XM_005273762.1:c.899A>T | XP_005273819.1:p.Gln300Leu | |
XM_005273763.1:c.899A>T | XP_005273820.1:p.Gln300Leu | |
XM_005273762.3:c.899A>T | XP_005273819.1:p.Gln300Leu | |
XM_017017220.1:c.803A>T | XP_016872709.1:p.Gln268Leu | |
NM_001876.4:c.803A>T MANE Select | NP_001867.2:p.Gln268Leu | |
NM_001031847.3:c.803A>T | NP_001027017.1:p.Gln268Leu |