HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34791139A>G , CM000677.2:g.34791139A>G | GRCh38 |
NC_000015.9:g.35083340A>G , CM000677.1:g.35083340A>G | GRCh37 |
NC_000015.8:g.32870632A>G | NCBI36 |
NG_007553.1:g.9588T>C , LRG_388:g.9588T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000560563.2:n.1865T>C (ACTC1) | ||
ENST00000290378.6:c.965T>C (ACTC1) MANE Select | ENSP00000290378.4:p.Leu322Pro | |
ENST00000647798.1:n.1059T>C (ACTC1) | ||
ENST00000650163.1:n.1045T>C (ACTC1) | ||
ENST00000290378.4:c.965T>C (ACTC1) | ENSP00000290378.4:p.Leu322Pro | |
NM_005159.4:c.965T>C , LRG_388t1:c.965T>C (ACTC1) | NP_005150.1:p.Leu322Pro | |
NR_120329.1:n.299+13708A>G (GJD2-DT) | ||
NM_005159.5:c.965T>C (ACTC1) MANE Select | NP_005150.1:p.Leu322Pro |