HGVS | Genome Assembly |
---|---|
NC_000015.10:g.40185641A= , CM000677.2:g.40185641A= | GRCh38 |
NC_000015.9:g.40477842A= , CM000677.1:g.40477842A= | GRCh37 |
NC_000015.8:g.38265134A= | NCBI36 |
NG_016338.1:g.29633A= , LRG_489:g.29633A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000287598.11:c.1057A= MANE Select | ENSP00000287598.7:p.Met353= | |
ENST00000287598.10:c.1057A= | ENSP00000287598.6:p.Met353= | |
ENST00000412359.7:c.1099A= | ENSP00000398470.3:p.Met367= | |
ENST00000557848.1:n.316A= | ||
ENST00000559733.5:c.170+1758A= | ||
ENST00000559772.1:n.170A= | ||
NM_001211.5:c.1057A= , LRG_489t1:c.1057A= | NP_001202.4:p.Met353= | |
XR_001751506.1:n.218-5440T= | ||
NM_001211.6:c.1057A= MANE Select | NP_001202.5:p.Met353= |