HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2787217A>G , CM000686.2:g.2787217A>G | GRCh38 |
NC_000024.9:g.2655258A>G , CM000686.1:g.2655258A>G | GRCh37 |
NC_000024.8:g.2715258A>G | NCBI36 |
NG_011751.1:g.5535T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000679518.1:n.106+12478A>G | ||
ENST00000679825.1:n.329A>G | ||
ENST00000680285.1:n.320-2532A>G | ||
ENST00000680845.1:n.165+164A>G | ||
ENST00000681787.1:n.106+12478A>G | ||
ENST00000681940.1:n.106+12478A>G | ||
ENST00000383070.2:c.387T>C MANE Select | ENSP00000372547.1:p.Tyr129= | |
ENST00000383070.1:c.387T>C | ENSP00000372547.1:p.Tyr129= | |
NM_003140.2:c.387T>C | NP_003131.1:p.Tyr129= | |
NM_003140.3:c.387T>C MANE Select | NP_003131.1:p.Tyr129= |