HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34792122C>A , CM000677.2:g.34792122C>A | GRCh38 |
NC_000015.9:g.35084323C>A , CM000677.1:g.35084323C>A | GRCh37 |
NC_000015.8:g.32871615C>A | NCBI36 |
NG_007553.1:g.8605G>T , LRG_388:g.8605G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.882G>T (ACTC1) | ||
ENST00000290378.6:c.776G>T (ACTC1) MANE Select | ENSP00000290378.4:p.Cys259Phe | |
ENST00000647798.1:n.870G>T (ACTC1) | ||
ENST00000650163.1:n.856G>T (ACTC1) | ||
ENST00000290378.4:c.776G>T (ACTC1) | ENSP00000290378.4:p.Cys259Phe | |
ENST00000557860.1:n.466G>T (ACTC1) | ||
ENST00000560563.1:n.275G>T (ACTC1) | ||
NM_005159.4:c.776G>T , LRG_388t1:c.776G>T (ACTC1) | NP_005150.1:p.Cys259Phe | |
NR_120329.1:n.299+14691C>A (GJD2-DT) | ||
NM_005159.5:c.776G>T (ACTC1) MANE Select | NP_005150.1:p.Cys259Phe |