HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34793527C>G , CM000677.2:g.34793527C>G | GRCh38 |
NC_000015.9:g.35085728C>G , CM000677.1:g.35085728C>G | GRCh37 |
NC_000015.8:g.32873020C>G | NCBI36 |
NG_007553.1:g.7200G>C , LRG_388:g.7200G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.278G>C (ACTC1) | ||
ENST00000290378.6:c.172G>C (ACTC1) MANE Select | ENSP00000290378.4:p.Asp58His | |
ENST00000647798.1:n.319G>C (ACTC1) | ||
ENST00000648556.1:n.329G>C (ACTC1) | ||
ENST00000650163.1:n.252G>C (ACTC1) | ||
ENST00000290378.4:c.172G>C (ACTC1) | ENSP00000290378.4:p.Asp58His | |
NM_005159.4:c.172G>C , LRG_388t1:c.172G>C (ACTC1) | NP_005150.1:p.Asp58His | |
NR_120329.1:n.299+16096C>G (GJD2-DT) | ||
NM_005159.5:c.172G>C (ACTC1) MANE Select | NP_005150.1:p.Asp58His |