HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171114038G>A , CM000663.2:g.171114038G>A | GRCh38 |
NC_000001.10:g.171083178G>A , CM000663.1:g.171083178G>A | GRCh37 |
NC_000001.9:g.169349802G>A | NCBI36 |
NG_012690.1:g.28161G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367755.9:c.859G>A MANE Select | ENSP00000356729.4:p.Glu287Lys | |
ENST00000367755.8:c.859G>A | ENSP00000356729.4:p.Glu287Lys | |
NM_001002294.2:c.859G>A | NP_001002294.1:p.Glu287Lys | |
NM_006894.5:c.859G>A | NP_008825.4:p.Glu287Lys | |
XM_005245044.1:c.670G>A | XP_005245101.1:p.Glu224Lys | |
XM_011509345.1:c.799G>A | XP_011507647.1:p.Glu267Lys | |
XM_011509346.1:c.799G>A | XP_011507648.1:p.Glu267Lys | |
NM_001319173.1:c.799G>A | NP_001306102.1:p.Glu267Lys | |
NM_001319174.1:c.670G>A | NP_001306103.1:p.Glu224Lys | |
XM_011509345.3:c.799G>A | XP_011507647.1:p.Glu267Lys | |
XM_024454365.1:c.112G>A | XP_024310133.1:p.Glu38Lys | |
NM_001002294.3:c.859G>A MANE Select | NP_001002294.1:p.Glu287Lys | |
NM_001319173.2:c.799G>A | NP_001306102.1:p.Glu267Lys | |
NM_001319174.2:c.670G>A | NP_001306103.1:p.Glu224Lys | |
NM_006894.6:c.859G>A | NP_008825.4:p.Glu287Lys |