HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34792567T>A , CM000677.2:g.34792567T>A | GRCh38 |
NC_000015.9:g.35084768T>A , CM000677.1:g.35084768T>A | GRCh37 |
NC_000015.8:g.32872060T>A | NCBI36 |
NG_007553.1:g.8160A>T , LRG_388:g.8160A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.563A>T (ACTC1) | ||
ENST00000290378.6:c.457A>T (ACTC1) MANE Select | ENSP00000290378.4:p.Ile153Phe | |
ENST00000647798.1:n.551A>T (ACTC1) | ||
ENST00000648556.1:n.614A>T (ACTC1) | ||
ENST00000650163.1:n.537A>T (ACTC1) | ||
ENST00000290378.4:c.457A>T (ACTC1) | ENSP00000290378.4:p.Ile153Phe | |
ENST00000557860.1:n.147A>T (ACTC1) | ||
NM_005159.4:c.457A>T , LRG_388t1:c.457A>T (ACTC1) | NP_005150.1:p.Ile153Phe | |
NR_120329.1:n.299+15136T>A (GJD2-DT) | ||
NM_005159.5:c.457A>T (ACTC1) MANE Select | NP_005150.1:p.Ile153Phe |