HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34790793G>C , CM000677.2:g.34790793G>C | GRCh38 |
NC_000015.9:g.35082994G>C , CM000677.1:g.35082994G>C | GRCh37 |
NC_000015.8:g.32870286G>C | NCBI36 |
NG_007553.1:g.9934C>G , LRG_388:g.9934C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.1891-238C>G (ACTC1) | ||
ENST00000290378.6:c.991-238C>G (ACTC1) MANE Select | ENSP00000290378.4:n.991-238C>G | |
ENST00000647798.1:n.1085-238C>G (ACTC1) | ||
ENST00000650163.1:n.1071-238C>G (ACTC1) | ||
ENST00000290378.4:c.991-238C>G (ACTC1) | ENSP00000290378.4:n.991-238C>G | |
NM_005159.4:c.991-238C>G , LRG_388t1:c.991-238C>G (ACTC1) | NP_005150.1:n.991-238C>G | |
NR_120329.1:n.299+13362G>C (GJD2-DT) | ||
NM_005159.5:c.991-238C>G (ACTC1) MANE Select | NP_005150.1:n.991-238C>G |