HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73323087C>A , CM000677.2:g.73323087C>A | GRCh38 |
NC_000015.9:g.73615428C>A , CM000677.1:g.73615428C>A | GRCh37 |
NC_000015.8:g.71402481C>A | NCBI36 |
NG_009063.1:g.51178G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261917.4:c.3006G>T MANE Select | ENSP00000261917.3:p.Glu1002Asp | |
ENST00000261917.3:c.3006G>T | ENSP00000261917.3:p.Glu1002Asp | |
NM_005477.2:c.3006G>T | NP_005468.1:p.Glu1002Asp | |
XM_011521148.1:c.1788G>T | XP_011519450.1:p.Glu596Asp | |
XM_011521148.2:c.1788G>T | XP_011519450.1:p.Glu596Asp | |
NM_005477.3:c.3006G>T MANE Select | NP_005468.1:p.Glu1002Asp |