HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57763682A= , CM000674.2:g.57763682A= | GRCh38 |
NC_000012.11:g.58157465A= , CM000674.1:g.58157465A= | GRCh37 |
NC_000012.10:g.56443732A= | NCBI36 |
NG_007076.1:g.8512T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1423T= | ENSP00000518840.1:p.Phe475= | |
ENST00000713545.1:c.*347T= | ENSP00000518841.1:n.*347T= | |
ENST00000228606.9:c.1342T= MANE Select | ENSP00000228606.4:p.Phe448= | |
ENST00000228606.8:c.1342T= | ENSP00000228606.4:p.Phe448= | |
ENST00000547344.5:n.1481T= | ||
NM_000785.3:c.1342T= | NP_000776.1:p.Phe448= | |
NM_000785.4:c.1342T= MANE Select | NP_000776.1:p.Phe448= |