HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34790600A>G , CM000677.2:g.34790600A>G | GRCh38 |
NC_000015.9:g.35082801A>G , CM000677.1:g.35082801A>G | GRCh37 |
NC_000015.8:g.32870093A>G | NCBI36 |
NG_007553.1:g.10127T>C , LRG_388:g.10127T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.1891-45T>C (ACTC1) | ||
ENST00000290378.6:c.991-45T>C (ACTC1) MANE Select | ENSP00000290378.4:n.991-45T>C | |
ENST00000647798.1:n.1085-45T>C (ACTC1) | ||
ENST00000650163.1:n.1071-45T>C (ACTC1) | ||
ENST00000290378.4:c.991-45T>C (ACTC1) | ENSP00000290378.4:n.991-45T>C | |
NM_005159.4:c.991-45T>C , LRG_388t1:c.991-45T>C (ACTC1) | NP_005150.1:n.991-45T>C | |
NR_120329.1:n.299+13169A>G (GJD2-DT) | ||
NM_005159.5:c.991-45T>C (ACTC1) MANE Select | NP_005150.1:n.991-45T>C |