HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47582332G>A , CM000673.2:g.47582332G>A | GRCh38 |
NC_000011.9:g.47603884G>A , CM000673.1:g.47603884G>A | GRCh37 |
NC_000011.8:g.47560460G>A | NCBI36 |
NG_011946.1:g.8323G>A | |
NG_011946.2:g.8323G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263774.9:c.508-17G>A MANE Select | ENSP00000263774.4:n.508-17G>A | |
ENST00000531351.2:n.1686G>A | ||
ENST00000677462.1:n.2982-17G>A | ||
ENST00000678975.1:n.2765-17G>A | ||
ENST00000263774.8:c.508-17G>A | ENSP00000263774.4:n.508-17G>A | |
ENST00000524568.1:n.611-17G>A | ||
ENST00000525212.1:n.163-17G>A | ||
ENST00000525378.5:n.446-17G>A | ||
ENST00000527178.1:n.91G>A | ||
ENST00000533507.5:n.1402-17G>A | ||
NM_004551.2:c.508-17G>A | NP_004542.1:n.508-17G>A | |
NM_004551.3:c.508-17G>A MANE Select | NP_004542.1:n.508-17G>A |