HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2787147G>C , CM000686.2:g.2787147G>C | GRCh38 |
NC_000024.9:g.2655188G>C , CM000686.1:g.2655188G>C | GRCh37 |
NC_000024.8:g.2715188G>C | NCBI36 |
NG_011751.1:g.5605C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000679518.1:n.106+12408G>C | ||
ENST00000679825.1:n.259G>C | ||
ENST00000680285.1:n.320-2602G>C | ||
ENST00000680845.1:n.165+94G>C | ||
ENST00000681787.1:n.106+12408G>C | ||
ENST00000681940.1:n.106+12408G>C | ||
ENST00000383070.2:c.457C>G MANE Select | ENSP00000372547.1:p.Leu153Val | |
ENST00000383070.1:c.457C>G | ENSP00000372547.1:p.Leu153Val | |
NM_003140.2:c.457C>G | NP_003131.1:p.Leu153Val | |
NM_003140.3:c.457C>G MANE Select | NP_003131.1:p.Leu153Val |