HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34793192T= , CM000677.2:g.34793192T= | GRCh38 |
NC_000015.9:g.35085393T= , CM000677.1:g.35085393T= | GRCh37 |
NC_000015.8:g.32872685T= | NCBI36 |
NG_007553.1:g.7535A= , LRG_388:g.7535A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.560+53A= (ACTC1) | ||
ENST00000290378.6:c.454+53A= (ACTC1) MANE Select | ENSP00000290378.4:n.454+53A= | |
ENST00000647798.1:n.548+106A= (ACTC1) | ||
ENST00000648556.1:n.611+53A= (ACTC1) | ||
ENST00000650163.1:n.534+53A= (ACTC1) | ||
ENST00000290378.4:c.454+53A= (ACTC1) | ENSP00000290378.4:n.454+53A= | |
NM_005159.4:c.454+53A= , LRG_388t1:c.454+53A= (ACTC1) | NP_005150.1:n.454+53A= | |
NR_120329.1:n.299+15761T= (GJD2-DT) | ||
NM_005159.5:c.454+53A= (ACTC1) MANE Select | NP_005150.1:n.454+53A= |