HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764126T= , CM000674.2:g.57764126T= | GRCh38 |
NC_000012.11:g.58157909T= , CM000674.1:g.58157909T= | GRCh37 |
NC_000012.10:g.56444176T= | NCBI36 |
NG_007076.1:g.8068A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000713544.1:c.1268A= | ENSP00000518840.1:p.His423= | |
ENST00000713545.1:c.*192A= | ENSP00000518841.1:n.*192A= | |
ENST00000228606.9:c.1187A= MANE Select | ENSP00000228606.4:p.His396= | |
ENST00000228606.8:c.1187A= | ENSP00000228606.4:p.His396= | |
ENST00000547344.5:n.1326A= | ||
NM_000785.3:c.1187A= | NP_000776.1:p.His396= | |
NM_000785.4:c.1187A= MANE Select | NP_000776.1:p.His396= |