HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2787244G>A , CM000686.2:g.2787244G>A | GRCh38 |
NC_000024.9:g.2655285G>A , CM000686.1:g.2655285G>A | GRCh37 |
NC_000024.8:g.2715285G>A | NCBI36 |
NG_011751.1:g.5508C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000679518.1:n.106+12505G>A | ||
ENST00000679825.1:n.356G>A | ||
ENST00000680285.1:n.320-2505G>A | ||
ENST00000680845.1:n.165+191G>A | ||
ENST00000681787.1:n.106+12505G>A | ||
ENST00000681940.1:n.106+12505G>A | ||
ENST00000383070.2:c.360C>T MANE Select | ENSP00000372547.1:p.His120= | |
ENST00000383070.1:c.360C>T | ENSP00000372547.1:p.His120= | |
NM_003140.2:c.360C>T | NP_003131.1:p.His120= | |
NM_003140.3:c.360C>T MANE Select | NP_003131.1:p.His120= |