HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2787257A>C , CM000686.2:g.2787257A>C | GRCh38 |
NC_000024.9:g.2655298A>C , CM000686.1:g.2655298A>C | GRCh37 |
NC_000024.8:g.2715298A>C | NCBI36 |
NG_011751.1:g.5495T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000679518.1:n.106+12518A>C | ||
ENST00000679825.1:n.369A>C | ||
ENST00000680285.1:n.320-2492A>C | ||
ENST00000680845.1:n.165+204A>C | ||
ENST00000681787.1:n.106+12518A>C | ||
ENST00000681940.1:n.106+12518A>C | ||
ENST00000383070.2:c.347T>G MANE Select | ENSP00000372547.1:p.Leu116Ter | |
ENST00000383070.1:c.347T>G | ENSP00000372547.1:p.Leu116Ter | |
NM_003140.2:c.347T>G | NP_003131.1:p.Leu116Ter | |
NM_003140.3:c.347T>G MANE Select | NP_003131.1:p.Leu116Ter |