HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34793464T>G , CM000677.2:g.34793464T>G | GRCh38 |
NC_000015.9:g.35085665T>G , CM000677.1:g.35085665T>G | GRCh37 |
NC_000015.8:g.32872957T>G | NCBI36 |
NG_007553.1:g.7263A>C , LRG_388:g.7263A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.341A>C (ACTC1) | ||
ENST00000290378.6:c.235A>C (ACTC1) MANE Select | ENSP00000290378.4:p.Thr79Pro | |
ENST00000647798.1:n.382A>C (ACTC1) | ||
ENST00000648556.1:n.392A>C (ACTC1) | ||
ENST00000650163.1:n.315A>C (ACTC1) | ||
ENST00000290378.4:c.235A>C (ACTC1) | ENSP00000290378.4:p.Thr79Pro | |
NM_005159.4:c.235A>C , LRG_388t1:c.235A>C (ACTC1) | NP_005150.1:p.Thr79Pro | |
NR_120329.1:n.299+16033T>G (GJD2-DT) | ||
NM_005159.5:c.235A>C (ACTC1) MANE Select | NP_005150.1:p.Thr79Pro |