HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57765071G= , CM000674.2:g.57765071G= | GRCh38 |
NC_000012.11:g.58158854G= , CM000674.1:g.58158854G= | GRCh37 |
NC_000012.10:g.56445121G= | NCBI36 |
NG_007076.1:g.7123C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000546609.2:n.642C= | ||
ENST00000713544.1:c.811C= | ENSP00000518840.1:p.His271= | |
ENST00000713545.1:c.788C= | ENSP00000518841.1:p.Pro263= | |
ENST00000228606.9:c.730C= MANE Select | ENSP00000228606.4:p.His244= | |
ENST00000228606.8:c.730C= | ENSP00000228606.4:p.His244= | |
ENST00000546567.5:c.25C= | ENSP00000449472.1:p.His9= | |
ENST00000546609.1:c.642C= | ||
ENST00000547344.5:n.869C= | ||
ENST00000547451.1:n.530C= | ||
NM_000785.3:c.730C= | NP_000776.1:p.His244= | |
NM_000785.4:c.730C= MANE Select | NP_000776.1:p.His244= |