HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34792248T>G , CM000677.2:g.34792248T>G | GRCh38 |
NC_000015.9:g.35084449T>G , CM000677.1:g.35084449T>G | GRCh37 |
NC_000015.8:g.32871741T>G | NCBI36 |
NG_007553.1:g.8479A>C , LRG_388:g.8479A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.756A>C (ACTC1) | ||
ENST00000290378.6:c.650A>C (ACTC1) MANE Select | ENSP00000290378.4:p.Lys217Thr | |
ENST00000647798.1:n.744A>C (ACTC1) | ||
ENST00000650163.1:n.730A>C (ACTC1) | ||
ENST00000290378.4:c.650A>C (ACTC1) | ENSP00000290378.4:p.Lys217Thr | |
ENST00000557860.1:n.340A>C (ACTC1) | ||
ENST00000560563.1:n.149A>C (ACTC1) | ||
NM_005159.4:c.650A>C , LRG_388t1:c.650A>C (ACTC1) | NP_005150.1:p.Lys217Thr | |
NR_120329.1:n.299+14817T>G (GJD2-DT) | ||
NM_005159.5:c.650A>C (ACTC1) MANE Select | NP_005150.1:p.Lys217Thr |