HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2786926C= , CM000686.2:g.2786926C= | GRCh38 |
NC_000024.9:g.2654967C= , CM000686.1:g.2654967C= | GRCh37 |
NC_000024.8:g.2714967C= | NCBI36 |
NG_011751.1:g.5826G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000679518.1:n.106+12187C= | ||
ENST00000679825.1:n.107-69C= | ||
ENST00000680285.1:n.320-2823C= | ||
ENST00000680845.1:n.107-69C= | ||
ENST00000681787.1:n.106+12187C= | ||
ENST00000681940.1:n.106+12187C= | ||
ENST00000383070.2:c.*63G= MANE Select | ENSP00000372547.1:n.*63G= | |
ENST00000383070.1:c.*63G= | ENSP00000372547.1:n.*63G= | |
NM_003140.2:c.*63G= | NP_003131.1:n.*63G= | |
NM_003140.3:c.*63G= MANE Select | NP_003131.1:n.*63G= |