HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57765129A>T , CM000674.2:g.57765129A>T | GRCh38 |
NC_000012.11:g.58158912A>T , CM000674.1:g.58158912A>T | GRCh37 |
NC_000012.10:g.56445179A>T | NCBI36 |
NG_007076.1:g.7065T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000546609.2:n.584T>A | ||
ENST00000713544.1:c.753T>A | ENSP00000518840.1:p.Ala251= | |
ENST00000713545.1:c.730T>A | ENSP00000518841.1:p.Cys244Ser | |
ENST00000228606.9:c.672T>A MANE Select | ENSP00000228606.4:p.Ala224= | |
ENST00000228606.8:c.672T>A | ENSP00000228606.4:p.Ala224= | |
ENST00000546567.5:c.-34T>A | ENSP00000449472.1:n.-34T>A | |
ENST00000546609.1:c.584T>A | ||
ENST00000547344.5:n.811T>A | ||
ENST00000547451.1:n.472T>A | ||
NM_000785.3:c.672T>A | NP_000776.1:p.Ala224= | |
NM_000785.4:c.672T>A MANE Select | NP_000776.1:p.Ala224= |