HGVS | Genome Assembly |
---|---|
NC_000015.10:g.40185635C>A , CM000677.2:g.40185635C>A | GRCh38 |
NC_000015.9:g.40477836C>A , CM000677.1:g.40477836C>A | GRCh37 |
NC_000015.8:g.38265128C>A | NCBI36 |
NG_016338.1:g.29627C>A , LRG_489:g.29627C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000287598.11:c.1051C>A MANE Select | ENSP00000287598.7:p.Pro351Thr | |
ENST00000287598.10:c.1051C>A | ENSP00000287598.6:p.Pro351Thr | |
ENST00000412359.7:c.1093C>A | ENSP00000398470.3:p.Pro365Thr | |
ENST00000557848.1:n.310C>A | ||
ENST00000559733.5:c.170+1752C>A | ||
ENST00000559772.1:n.164C>A | ||
NM_001211.5:c.1051C>A , LRG_489t1:c.1051C>A | NP_001202.4:p.Pro351Thr | |
XR_001751506.1:n.218-5434G>T | ||
NM_001211.6:c.1051C>A MANE Select | NP_001202.5:p.Pro351Thr |