HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34791242C>T , CM000677.2:g.34791242C>T | GRCh38 |
NC_000015.9:g.35083443C>T , CM000677.1:g.35083443C>T | GRCh37 |
NC_000015.8:g.32870735C>T | NCBI36 |
NG_007553.1:g.9485G>A , LRG_388:g.9485G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000560563.2:n.1762G>A (ACTC1) | ||
ENST00000290378.6:c.862G>A (ACTC1) MANE Select | ENSP00000290378.4:p.Asp288Asn | |
ENST00000647798.1:n.956G>A (ACTC1) | ||
ENST00000650163.1:n.942G>A (ACTC1) | ||
ENST00000290378.4:c.862G>A (ACTC1) | ENSP00000290378.4:p.Asp288Asn | |
ENST00000557860.1:n.552G>A (ACTC1) | ||
NM_005159.4:c.862G>A , LRG_388t1:c.862G>A (ACTC1) | NP_005150.1:p.Asp288Asn | |
NR_120329.1:n.299+13811C>T (GJD2-DT) | ||
NM_005159.5:c.862G>A (ACTC1) MANE Select | NP_005150.1:p.Asp288Asn |