HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34793263C>A , CM000677.2:g.34793263C>A | GRCh38 |
NC_000015.9:g.35085464C>A , CM000677.1:g.35085464C>A | GRCh37 |
NC_000015.8:g.32872756C>A | NCBI36 |
NG_007553.1:g.7464G>T , LRG_388:g.7464G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.542G>T (ACTC1) | ||
ENST00000290378.6:c.436G>T (ACTC1) MANE Select | ENSP00000290378.4:p.Ala146Ser | |
ENST00000647798.1:n.548+35G>T (ACTC1) | ||
ENST00000648556.1:n.593G>T (ACTC1) | ||
ENST00000650163.1:n.516G>T (ACTC1) | ||
ENST00000290378.4:c.436G>T (ACTC1) | ENSP00000290378.4:p.Ala146Ser | |
NM_005159.4:c.436G>T , LRG_388t1:c.436G>T (ACTC1) | NP_005150.1:p.Ala146Ser | |
NR_120329.1:n.299+15832C>A (GJD2-DT) | ||
NM_005159.5:c.436G>T (ACTC1) MANE Select | NP_005150.1:p.Ala146Ser |