HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34791125T>G , CM000677.2:g.34791125T>G | GRCh38 |
NC_000015.9:g.35083326T>G , CM000677.1:g.35083326T>G | GRCh37 |
NC_000015.8:g.32870618T>G | NCBI36 |
NG_007553.1:g.9602A>C , LRG_388:g.9602A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.1879A>C (ACTC1) | ||
ENST00000290378.6:c.979A>C (ACTC1) MANE Select | ENSP00000290378.4:p.Met327Leu | |
ENST00000647798.1:n.1073A>C (ACTC1) | ||
ENST00000650163.1:n.1059A>C (ACTC1) | ||
ENST00000290378.4:c.979A>C (ACTC1) | ENSP00000290378.4:p.Met327Leu | |
NM_005159.4:c.979A>C , LRG_388t1:c.979A>C (ACTC1) | NP_005150.1:p.Met327Leu | |
NR_120329.1:n.299+13694T>G (GJD2-DT) | ||
NM_005159.5:c.979A>C (ACTC1) MANE Select | NP_005150.1:p.Met327Leu |