HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34793451T>C , CM000677.2:g.34793451T>C | GRCh38 |
NC_000015.9:g.35085652T>C , CM000677.1:g.35085652T>C | GRCh37 |
NC_000015.8:g.32872944T>C | NCBI36 |
NG_007553.1:g.7276A>G , LRG_388:g.7276A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.354A>G (ACTC1) | ||
ENST00000290378.6:c.248A>G (ACTC1) MANE Select | ENSP00000290378.4:p.Asp83Gly | |
ENST00000647798.1:n.395A>G (ACTC1) | ||
ENST00000648556.1:n.405A>G (ACTC1) | ||
ENST00000650163.1:n.328A>G (ACTC1) | ||
ENST00000290378.4:c.248A>G (ACTC1) | ENSP00000290378.4:p.Asp83Gly | |
NM_005159.4:c.248A>G , LRG_388t1:c.248A>G (ACTC1) | NP_005150.1:p.Asp83Gly | |
NR_120329.1:n.299+16020T>C (GJD2-DT) | ||
NM_005159.5:c.248A>G (ACTC1) MANE Select | NP_005150.1:p.Asp83Gly |