HGVS | Genome Assembly |
---|---|
NC_000015.10:g.40185637A>G , CM000677.2:g.40185637A>G | GRCh38 |
NC_000015.9:g.40477838A>G , CM000677.1:g.40477838A>G | GRCh37 |
NC_000015.8:g.38265130A>G | NCBI36 |
NG_016338.1:g.29629A>G , LRG_489:g.29629A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287598.11:c.1053A>G MANE Select | ENSP00000287598.7:p.Pro351= | |
ENST00000287598.10:c.1053A>G | ENSP00000287598.6:p.Pro351= | |
ENST00000412359.7:c.1095A>G | ENSP00000398470.3:p.Pro365= | |
ENST00000557848.1:n.312A>G | ||
ENST00000559733.5:c.170+1754A>G | ||
ENST00000559772.1:n.166A>G | ||
NM_001211.5:c.1053A>G , LRG_489t1:c.1053A>G | NP_001202.4:p.Pro351= | |
XR_001751506.1:n.218-5436T>C | ||
NM_001211.6:c.1053A>G MANE Select | NP_001202.5:p.Pro351= |