HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34793516C>T , CM000677.2:g.34793516C>T | GRCh38 |
NC_000015.9:g.35085717C>T , CM000677.1:g.35085717C>T | GRCh37 |
NC_000015.8:g.32873009C>T | NCBI36 |
NG_007553.1:g.7211G>A , LRG_388:g.7211G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.289G>A (ACTC1) | ||
ENST00000290378.6:c.183G>A (ACTC1) MANE Select | ENSP00000290378.4:p.Gln61= | |
ENST00000647798.1:n.330G>A (ACTC1) | ||
ENST00000648556.1:n.340G>A (ACTC1) | ||
ENST00000650163.1:n.263G>A (ACTC1) | ||
ENST00000290378.4:c.183G>A (ACTC1) | ENSP00000290378.4:p.Gln61= | |
NM_005159.4:c.183G>A , LRG_388t1:c.183G>A (ACTC1) | NP_005150.1:p.Gln61= | |
NR_120329.1:n.299+16085C>T (GJD2-DT) | ||
NM_005159.5:c.183G>A (ACTC1) MANE Select | NP_005150.1:p.Gln61= |