HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34791169G= , CM000677.2:g.34791169G= | GRCh38 |
NC_000015.9:g.35083370G= , CM000677.1:g.35083370G= | GRCh37 |
NC_000015.8:g.32870662G= | NCBI36 |
NG_007553.1:g.9558C= , LRG_388:g.9558C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.1835C= (ACTC1) | ||
ENST00000290378.6:c.935C= (ACTC1) MANE Select | ENSP00000290378.4:p.Ala312= | |
ENST00000647798.1:n.1029C= (ACTC1) | ||
ENST00000650163.1:n.1015C= (ACTC1) | ||
ENST00000290378.4:c.935C= (ACTC1) | ENSP00000290378.4:p.Ala312= | |
ENST00000557860.1:n.625C= (ACTC1) | ||
NM_005159.4:c.935C= , LRG_388t1:c.935C= (ACTC1) | NP_005150.1:p.Ala312= | |
NR_120329.1:n.299+13738G= (GJD2-DT) | ||
NM_005159.5:c.935C= (ACTC1) MANE Select | NP_005150.1:p.Ala312= |