HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34788805G>T , CM000677.2:g.34788805G>T | GRCh38 |
NC_000015.9:g.35081006G>T , CM000677.1:g.35081006G>T | GRCh37 |
NC_000015.8:g.32868298G>T | NCBI36 |
NG_007553.1:g.11922C>A , LRG_388:g.11922C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290378.4:c.*1607C>A (ACTC1) | ENSP00000290378.4:n.*1607C>A | |
NM_005159.4:c.*1607C>A , LRG_388t1:c.*1607C>A (ACTC1) | NP_005150.1:n.*1607C>A | |
NR_120329.1:n.299+11374G>T (GJD2-DT) |