HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34793632G>A , CM000677.2:g.34793632G>A | GRCh38 |
NC_000015.9:g.35085833G>A , CM000677.1:g.35085833G>A | GRCh37 |
NC_000015.8:g.32873125G>A | NCBI36 |
NG_007553.1:g.7095C>T , LRG_388:g.7095C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.236-63C>T (ACTC1) | ||
ENST00000290378.6:c.130-63C>T (ACTC1) MANE Select | ENSP00000290378.4:n.130-63C>T | |
ENST00000647798.1:n.277-63C>T (ACTC1) | ||
ENST00000648556.1:n.287-63C>T (ACTC1) | ||
ENST00000650163.1:n.210-63C>T (ACTC1) | ||
ENST00000290378.4:c.130-63C>T (ACTC1) | ENSP00000290378.4:n.130-63C>T | |
NM_005159.4:c.130-63C>T , LRG_388t1:c.130-63C>T (ACTC1) | NP_005150.1:n.130-63C>T | |
NR_120329.1:n.299+16201G>A (GJD2-DT) | ||
NM_005159.5:c.130-63C>T (ACTC1) MANE Select | NP_005150.1:n.130-63C>T |