HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34792099A>G , CM000677.2:g.34792099A>G | GRCh38 |
NC_000015.9:g.35084300A>G , CM000677.1:g.35084300A>G | GRCh37 |
NC_000015.8:g.32871592A>G | NCBI36 |
NG_007553.1:g.8628T>C , LRG_388:g.8628T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000560563.2:n.905T>C (ACTC1) | ||
ENST00000290378.6:c.799T>C (ACTC1) MANE Select | ENSP00000290378.4:p.Ser267Pro | |
ENST00000647798.1:n.893T>C (ACTC1) | ||
ENST00000650163.1:n.879T>C (ACTC1) | ||
ENST00000290378.4:c.799T>C (ACTC1) | ENSP00000290378.4:p.Ser267Pro | |
ENST00000557860.1:n.489T>C (ACTC1) | ||
ENST00000560563.1:n.298T>C (ACTC1) | ||
NM_005159.4:c.799T>C , LRG_388t1:c.799T>C (ACTC1) | NP_005150.1:p.Ser267Pro | |
NR_120329.1:n.299+14668A>G (GJD2-DT) | ||
NM_005159.5:c.799T>C (ACTC1) MANE Select | NP_005150.1:p.Ser267Pro |