HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2787300T>C , CM000686.2:g.2787300T>C | GRCh38 |
NC_000024.9:g.2655341T>C , CM000686.1:g.2655341T>C | GRCh37 |
NC_000024.8:g.2715341T>C | NCBI36 |
NG_011751.1:g.5452A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000679518.1:n.106+12561T>C | ||
ENST00000679825.1:n.412T>C | ||
ENST00000680285.1:n.320-2449T>C | ||
ENST00000680845.1:n.166-180T>C | ||
ENST00000681787.1:n.106+12561T>C | ||
ENST00000681940.1:n.106+12561T>C | ||
ENST00000383070.2:c.304A>G MANE Select | ENSP00000372547.1:p.Thr102Ala | |
ENST00000383070.1:c.304A>G | ENSP00000372547.1:p.Thr102Ala | |
NM_003140.2:c.304A>G | NP_003131.1:p.Thr102Ala | |
NM_003140.3:c.304A>G MANE Select | NP_003131.1:p.Thr102Ala |