HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57765129A= , CM000674.2:g.57765129A= | GRCh38 |
NC_000012.11:g.58158912A= , CM000674.1:g.58158912A= | GRCh37 |
NC_000012.10:g.56445179A= | NCBI36 |
NG_007076.1:g.7065T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000546609.2:n.584T= | ||
ENST00000713544.1:c.753T= | ENSP00000518840.1:p.Ala251= | |
ENST00000713545.1:c.730T= | ENSP00000518841.1:p.Cys244= | |
ENST00000228606.9:c.672T= MANE Select | ENSP00000228606.4:p.Ala224= | |
ENST00000228606.8:c.672T= | ENSP00000228606.4:p.Ala224= | |
ENST00000546567.5:c.-34T= | ENSP00000449472.1:n.-34T= | |
ENST00000546609.1:c.584T= | ||
ENST00000547344.5:n.811T= | ||
ENST00000547451.1:n.472T= | ||
NM_000785.3:c.672T= | NP_000776.1:p.Ala224= | |
NM_000785.4:c.672T= MANE Select | NP_000776.1:p.Ala224= |