HGVS | Genome Assembly |
---|---|
NC_000024.10:g.6868043C>T , CM000686.2:g.6868043C>T | GRCh38 |
NC_000024.9:g.6736084C>T , CM000686.1:g.6736084C>T | GRCh37 |
NC_000024.8:g.6796084C>T | NCBI36 |
NG_008011.1:g.10985G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000651267.2:c.567G>A MANE Select | ENSP00000498344.1:p.Glu189= | |
ENST00000215479.10:c.567G>A | ENSP00000215479.5:p.Glu189= | |
ENST00000651267.1:c.567G>A | ENSP00000498344.1:p.Glu189= | |
ENST00000215479.9:c.567G>A | ENSP00000215479.5:p.Glu189= | |
ENST00000383036.1:c.609G>A | ENSP00000372505.1:p.Glu203= | |
NM_001143.1:c.567G>A | NP_001134.1:p.Glu189= | |
XM_011531472.1:c.609G>A | XP_011529774.1:p.Glu203= | |
NM_001364814.1:c.609G>A | NP_001351743.1:p.Glu203= | |
NM_001143.2:c.567G>A MANE Select | NP_001134.1:p.Glu189= |