HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34793394T>A , CM000677.2:g.34793394T>A | GRCh38 |
NC_000015.9:g.35085595T>A , CM000677.1:g.35085595T>A | GRCh37 |
NC_000015.8:g.32872887T>A | NCBI36 |
NG_007553.1:g.7333A>T , LRG_388:g.7333A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.411A>T (ACTC1) | ||
ENST00000290378.6:c.305A>T (ACTC1) MANE Select | ENSP00000290378.4:p.Glu102Val | |
ENST00000647798.1:n.452A>T (ACTC1) | ||
ENST00000648556.1:n.462A>T (ACTC1) | ||
ENST00000650163.1:n.385A>T (ACTC1) | ||
ENST00000290378.4:c.305A>T (ACTC1) | ENSP00000290378.4:p.Glu102Val | |
NM_005159.4:c.305A>T , LRG_388t1:c.305A>T (ACTC1) | NP_005150.1:p.Glu102Val | |
NR_120329.1:n.299+15963T>A (GJD2-DT) | ||
NM_005159.5:c.305A>T (ACTC1) MANE Select | NP_005150.1:p.Glu102Val |