HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2787013G>A , CM000686.2:g.2787013G>A | GRCh38 |
NC_000024.9:g.2655054G>A , CM000686.1:g.2655054G>A | GRCh37 |
NC_000024.8:g.2715054G>A | NCBI36 |
NG_011751.1:g.5739C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000679518.1:n.106+12274G>A | ||
ENST00000679825.1:n.125G>A | ||
ENST00000680285.1:n.320-2736G>A | ||
ENST00000680845.1:n.125G>A | ||
ENST00000681787.1:n.106+12274G>A | ||
ENST00000681940.1:n.106+12274G>A | ||
ENST00000383070.2:c.591C>T MANE Select | ENSP00000372547.1:p.Arg197= | |
ENST00000383070.1:c.591C>T | ENSP00000372547.1:p.Arg197= | |
NM_003140.2:c.591C>T | NP_003131.1:p.Arg197= | |
NM_003140.3:c.591C>T MANE Select | NP_003131.1:p.Arg197= |