HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2787558C>G , CM000686.2:g.2787558C>G | GRCh38 |
NC_000024.9:g.2655599C>G , CM000686.1:g.2655599C>G | GRCh37 |
NC_000024.8:g.2715599C>G | NCBI36 |
NG_011751.1:g.5194G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000679518.1:n.106+12819C>G | ||
ENST00000679825.1:n.670C>G | ||
ENST00000680285.1:n.320-2191C>G | ||
ENST00000680845.1:n.244C>G | ||
ENST00000681787.1:n.106+12819C>G | ||
ENST00000681940.1:n.106+12819C>G | ||
ENST00000383070.2:c.46G>C MANE Select | ENSP00000372547.1:p.Asp16His | |
ENST00000383070.1:c.46G>C | ENSP00000372547.1:p.Asp16His | |
NM_003140.2:c.46G>C | NP_003131.1:p.Asp16His | |
NM_003140.3:c.46G>C MANE Select | NP_003131.1:p.Asp16His |