HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34791149T>A , CM000677.2:g.34791149T>A | GRCh38 |
NC_000015.9:g.35083350T>A , CM000677.1:g.35083350T>A | GRCh37 |
NC_000015.8:g.32870642T>A | NCBI36 |
NG_007553.1:g.9578A>T , LRG_388:g.9578A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000560563.2:n.1855A>T (ACTC1) | ||
ENST00000290378.6:c.955A>T (ACTC1) MANE Select | ENSP00000290378.4:p.Ile319Phe | |
ENST00000647798.1:n.1049A>T (ACTC1) | ||
ENST00000650163.1:n.1035A>T (ACTC1) | ||
ENST00000290378.4:c.955A>T (ACTC1) | ENSP00000290378.4:p.Ile319Phe | |
NM_005159.4:c.955A>T , LRG_388t1:c.955A>T (ACTC1) | NP_005150.1:p.Ile319Phe | |
NR_120329.1:n.299+13718T>A (GJD2-DT) | ||
NM_005159.5:c.955A>T (ACTC1) MANE Select | NP_005150.1:p.Ile319Phe |