HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34790264G>T , CM000677.2:g.34790264G>T | GRCh38 |
NC_000015.9:g.35082465G>T , CM000677.1:g.35082465G>T | GRCh37 |
NC_000015.8:g.32869757G>T | NCBI36 |
NG_007553.1:g.10463C>A , LRG_388:g.10463C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.2182C>A (ACTC1) | ||
ENST00000290378.6:c.*148C>A (ACTC1) MANE Select | ENSP00000290378.4:n.*148C>A | |
ENST00000647798.1:n.1376C>A (ACTC1) | ||
ENST00000650163.1:n.1362C>A (ACTC1) | ||
ENST00000290378.4:c.*148C>A (ACTC1) | ENSP00000290378.4:n.*148C>A | |
NM_005159.4:c.*148C>A , LRG_388t1:c.*148C>A (ACTC1) | NP_005150.1:n.*148C>A | |
NR_120329.1:n.299+12833G>T (GJD2-DT) | ||
NM_005159.5:c.*148C>A (ACTC1) MANE Select | NP_005150.1:n.*148C>A |