HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34793488A>G , CM000677.2:g.34793488A>G | GRCh38 |
NC_000015.9:g.35085689A>G , CM000677.1:g.35085689A>G | GRCh37 |
NC_000015.8:g.32872981A>G | NCBI36 |
NG_007553.1:g.7239T>C , LRG_388:g.7239T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.317T>C (ACTC1) | ||
ENST00000290378.6:c.211T>C (ACTC1) MANE Select | ENSP00000290378.4:p.Tyr71His | |
ENST00000647798.1:n.358T>C (ACTC1) | ||
ENST00000648556.1:n.368T>C (ACTC1) | ||
ENST00000650163.1:n.291T>C (ACTC1) | ||
ENST00000290378.4:c.211T>C (ACTC1) | ENSP00000290378.4:p.Tyr71His | |
NM_005159.4:c.211T>C , LRG_388t1:c.211T>C (ACTC1) | NP_005150.1:p.Tyr71His | |
NR_120329.1:n.299+16057A>G (GJD2-DT) | ||
NM_005159.5:c.211T>C (ACTC1) MANE Select | NP_005150.1:p.Tyr71His |