HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34792178C>T , CM000677.2:g.34792178C>T | GRCh38 |
NC_000015.9:g.35084379C>T , CM000677.1:g.35084379C>T | GRCh37 |
NC_000015.8:g.32871671C>T | NCBI36 |
NG_007553.1:g.8549G>A , LRG_388:g.8549G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.826G>A (ACTC1) | ||
ENST00000290378.6:c.720G>A (ACTC1) MANE Select | ENSP00000290378.4:p.Lys240= | |
ENST00000647798.1:n.814G>A (ACTC1) | ||
ENST00000650163.1:n.800G>A (ACTC1) | ||
ENST00000290378.4:c.720G>A (ACTC1) | ENSP00000290378.4:p.Lys240= | |
ENST00000557860.1:n.410G>A (ACTC1) | ||
ENST00000560563.1:n.219G>A (ACTC1) | ||
NM_005159.4:c.720G>A , LRG_388t1:c.720G>A (ACTC1) | NP_005150.1:p.Lys240= | |
NR_120329.1:n.299+14747C>T (GJD2-DT) | ||
NM_005159.5:c.720G>A (ACTC1) MANE Select | NP_005150.1:p.Lys240= |