HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34792523G= , CM000677.2:g.34792523G= | GRCh38 |
NC_000015.9:g.35084724G= , CM000677.1:g.35084724G= | GRCh37 |
NC_000015.8:g.32872016G= | NCBI36 |
NG_007553.1:g.8204C= , LRG_388:g.8204C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.607C= (ACTC1) | ||
ENST00000290378.6:c.501C= (ACTC1) MANE Select | ENSP00000290378.4:p.Ile167= | |
ENST00000647798.1:n.595C= (ACTC1) | ||
ENST00000648556.1:n.658C= (ACTC1) | ||
ENST00000650163.1:n.581C= (ACTC1) | ||
ENST00000290378.4:c.501C= (ACTC1) | ENSP00000290378.4:p.Ile167= | |
ENST00000557860.1:n.191C= (ACTC1) | ||
NM_005159.4:c.501C= , LRG_388t1:c.501C= (ACTC1) | NP_005150.1:p.Ile167= | |
NR_120329.1:n.299+15092G= (GJD2-DT) | ||
NM_005159.5:c.501C= (ACTC1) MANE Select | NP_005150.1:p.Ile167= |