HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34793521C= , CM000677.2:g.34793521C= | GRCh38 |
NC_000015.9:g.35085722C= , CM000677.1:g.35085722C= | GRCh37 |
NC_000015.8:g.32873014C= | NCBI36 |
NG_007553.1:g.7206G= , LRG_388:g.7206G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.284G= (ACTC1) | ||
ENST00000290378.6:c.178G= (ACTC1) MANE Select | ENSP00000290378.4:p.Ala60= | |
ENST00000647798.1:n.325G= (ACTC1) | ||
ENST00000648556.1:n.335G= (ACTC1) | ||
ENST00000650163.1:n.258G= (ACTC1) | ||
ENST00000290378.4:c.178G= (ACTC1) | ENSP00000290378.4:p.Ala60= | |
NM_005159.4:c.178G= , LRG_388t1:c.178G= (ACTC1) | NP_005150.1:p.Ala60= | |
NR_120329.1:n.299+16090C= (GJD2-DT) | ||
NM_005159.5:c.178G= (ACTC1) MANE Select | NP_005150.1:p.Ala60= |