HGVS | Genome Assembly |
---|---|
NC_000019.10:g.50791780C>A , CM000681.2:g.50791780C>A | GRCh38 |
NC_000019.9:g.51295037C>A , CM000681.1:g.51295037C>A | GRCh37 |
NC_000019.8:g.55986849C>A | NCBI36 |
NG_052652.1:g.6366C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270593.2:c.428C>A (ACP4) MANE Select | ENSP00000270593.1:p.Thr143Lys | |
ENST00000636757.1:c.-60+625G>T (SMIM47) | ENSP00000489695.1:n.-60+625G>T | |
ENST00000270593.1:c.428C>A (ACP4) | ENSP00000270593.1:p.Thr143Lys | |
NM_033068.2:c.428C>A (ACP4) | NP_149059.1:p.Thr143Lys | |
XR_936026.1:n.424+625G>T | ||
XR_936026.2:n.434+625G>T | ||
NM_033068.3:c.428C>A (ACP4) MANE Select | NP_149059.1:p.Thr143Lys |