HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34793304G>A , CM000677.2:g.34793304G>A | GRCh38 |
NC_000015.9:g.35085505G>A , CM000677.1:g.35085505G>A | GRCh37 |
NC_000015.8:g.32872797G>A | NCBI36 |
NG_007553.1:g.7423C>T , LRG_388:g.7423C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.501C>T (ACTC1) | ||
ENST00000290378.6:c.395C>T (ACTC1) MANE Select | ENSP00000290378.4:p.Pro132Leu | |
ENST00000647798.1:n.542C>T (ACTC1) | ||
ENST00000648556.1:n.552C>T (ACTC1) | ||
ENST00000650163.1:n.475C>T (ACTC1) | ||
ENST00000290378.4:c.395C>T (ACTC1) | ENSP00000290378.4:p.Pro132Leu | |
NM_005159.4:c.395C>T , LRG_388t1:c.395C>T (ACTC1) | NP_005150.1:p.Pro132Leu | |
NR_120329.1:n.299+15873G>A (GJD2-DT) | ||
NM_005159.5:c.395C>T (ACTC1) MANE Select | NP_005150.1:p.Pro132Leu |