HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34793406A>C , CM000677.2:g.34793406A>C | GRCh38 |
NC_000015.9:g.35085607A>C , CM000677.1:g.35085607A>C | GRCh37 |
NC_000015.8:g.32872899A>C | NCBI36 |
NG_007553.1:g.7321T>G , LRG_388:g.7321T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.399T>G (ACTC1) | ||
ENST00000290378.6:c.293T>G (ACTC1) MANE Select | ENSP00000290378.4:p.Val98Gly | |
ENST00000647798.1:n.440T>G (ACTC1) | ||
ENST00000648556.1:n.450T>G (ACTC1) | ||
ENST00000650163.1:n.373T>G (ACTC1) | ||
ENST00000290378.4:c.293T>G (ACTC1) | ENSP00000290378.4:p.Val98Gly | |
NM_005159.4:c.293T>G , LRG_388t1:c.293T>G (ACTC1) | NP_005150.1:p.Val98Gly | |
NR_120329.1:n.299+15975A>C (GJD2-DT) | ||
NM_005159.5:c.293T>G (ACTC1) MANE Select | NP_005150.1:p.Val98Gly |