HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2787283C= , CM000686.2:g.2787283C= | GRCh38 |
NC_000024.9:g.2655324C= , CM000686.1:g.2655324C= | GRCh37 |
NC_000024.8:g.2715324C= | NCBI36 |
NG_011751.1:g.5469G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000679518.1:n.106+12544C= | ||
ENST00000679825.1:n.395C= | ||
ENST00000680285.1:n.320-2466C= | ||
ENST00000680845.1:n.166-197C= | ||
ENST00000681787.1:n.106+12544C= | ||
ENST00000681940.1:n.106+12544C= | ||
ENST00000383070.2:c.321G= MANE Select | ENSP00000372547.1:p.Trp107= | |
ENST00000383070.1:c.321G= | ENSP00000372547.1:p.Trp107= | |
NM_003140.2:c.321G= | NP_003131.1:p.Trp107= | |
NM_003140.3:c.321G= MANE Select | NP_003131.1:p.Trp107= |