HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34792124G>C , CM000677.2:g.34792124G>C | GRCh38 |
NC_000015.9:g.35084325G>C , CM000677.1:g.35084325G>C | GRCh37 |
NC_000015.8:g.32871617G>C | NCBI36 |
NG_007553.1:g.8603C>G , LRG_388:g.8603C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.880C>G (ACTC1) | ||
ENST00000290378.6:c.774C>G (ACTC1) MANE Select | ENSP00000290378.4:p.Arg258= | |
ENST00000647798.1:n.868C>G (ACTC1) | ||
ENST00000650163.1:n.854C>G (ACTC1) | ||
ENST00000290378.4:c.774C>G (ACTC1) | ENSP00000290378.4:p.Arg258= | |
ENST00000557860.1:n.464C>G (ACTC1) | ||
ENST00000560563.1:n.273C>G (ACTC1) | ||
NM_005159.4:c.774C>G , LRG_388t1:c.774C>G (ACTC1) | NP_005150.1:p.Arg258= | |
NR_120329.1:n.299+14693G>C (GJD2-DT) | ||
NM_005159.5:c.774C>G (ACTC1) MANE Select | NP_005150.1:p.Arg258= |