HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34793287T>C , CM000677.2:g.34793287T>C | GRCh38 |
NC_000015.9:g.35085488T>C , CM000677.1:g.35085488T>C | GRCh37 |
NC_000015.8:g.32872780T>C | NCBI36 |
NG_007553.1:g.7440A>G , LRG_388:g.7440A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.518A>G (ACTC1) | ||
ENST00000290378.6:c.412A>G (ACTC1) MANE Select | ENSP00000290378.4:p.Ile138Val | |
ENST00000647798.1:n.548+11A>G (ACTC1) | ||
ENST00000648556.1:n.569A>G (ACTC1) | ||
ENST00000650163.1:n.492A>G (ACTC1) | ||
ENST00000290378.4:c.412A>G (ACTC1) | ENSP00000290378.4:p.Ile138Val | |
NM_005159.4:c.412A>G , LRG_388t1:c.412A>G (ACTC1) | NP_005150.1:p.Ile138Val | |
NR_120329.1:n.299+15856T>C (GJD2-DT) | ||
NM_005159.5:c.412A>G (ACTC1) MANE Select | NP_005150.1:p.Ile138Val |