HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34791596A>C , CM000677.2:g.34791596A>C | GRCh38 |
NC_000015.9:g.35083797A>C , CM000677.1:g.35083797A>C | GRCh37 |
NC_000015.8:g.32871089A>C | NCBI36 |
NG_007553.1:g.9131T>G , LRG_388:g.9131T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.1408T>G (ACTC1) | ||
ENST00000290378.6:c.809-301T>G (ACTC1) MANE Select | ENSP00000290378.4:n.809-301T>G | |
ENST00000647798.1:n.903-301T>G (ACTC1) | ||
ENST00000650163.1:n.889-301T>G (ACTC1) | ||
ENST00000290378.4:c.809-301T>G (ACTC1) | ENSP00000290378.4:n.809-301T>G | |
ENST00000557860.1:n.499-301T>G (ACTC1) | ||
NM_005159.4:c.809-301T>G , LRG_388t1:c.809-301T>G (ACTC1) | NP_005150.1:n.809-301T>G | |
NR_120329.1:n.299+14165A>C (GJD2-DT) | ||
NM_005159.5:c.809-301T>G (ACTC1) MANE Select | NP_005150.1:n.809-301T>G |