HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34792162C>T , CM000677.2:g.34792162C>T | GRCh38 |
NC_000015.9:g.35084363C>T , CM000677.1:g.35084363C>T | GRCh37 |
NC_000015.8:g.32871655C>T | NCBI36 |
NG_007553.1:g.8565G>A , LRG_388:g.8565G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.842G>A (ACTC1) | ||
ENST00000290378.6:c.736G>A (ACTC1) MANE Select | ENSP00000290378.4:p.Asp246Asn | |
ENST00000647798.1:n.830G>A (ACTC1) | ||
ENST00000650163.1:n.816G>A (ACTC1) | ||
ENST00000290378.4:c.736G>A (ACTC1) | ENSP00000290378.4:p.Asp246Asn | |
ENST00000557860.1:n.426G>A (ACTC1) | ||
ENST00000560563.1:n.235G>A (ACTC1) | ||
NM_005159.4:c.736G>A , LRG_388t1:c.736G>A (ACTC1) | NP_005150.1:p.Asp246Asn | |
NR_120329.1:n.299+14731C>T (GJD2-DT) | ||
NM_005159.5:c.736G>A (ACTC1) MANE Select | NP_005150.1:p.Asp246Asn |