HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34791169G>A , CM000677.2:g.34791169G>A | GRCh38 |
NC_000015.9:g.35083370G>A , CM000677.1:g.35083370G>A | GRCh37 |
NC_000015.8:g.32870662G>A | NCBI36 |
NG_007553.1:g.9558C>T , LRG_388:g.9558C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.1835C>T (ACTC1) | ||
ENST00000290378.6:c.935C>T (ACTC1) MANE Select | ENSP00000290378.4:p.Ala312Val | |
ENST00000647798.1:n.1029C>T (ACTC1) | ||
ENST00000650163.1:n.1015C>T (ACTC1) | ||
ENST00000290378.4:c.935C>T (ACTC1) | ENSP00000290378.4:p.Ala312Val | |
ENST00000557860.1:n.625C>T (ACTC1) | ||
NM_005159.4:c.935C>T , LRG_388t1:c.935C>T (ACTC1) | NP_005150.1:p.Ala312Val | |
NR_120329.1:n.299+13738G>A (GJD2-DT) | ||
NM_005159.5:c.935C>T (ACTC1) MANE Select | NP_005150.1:p.Ala312Val |