HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2787047A>G , CM000686.2:g.2787047A>G | GRCh38 |
NC_000024.9:g.2655088A>G , CM000686.1:g.2655088A>G | GRCh37 |
NC_000024.8:g.2715088A>G | NCBI36 |
NG_011751.1:g.5705T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000679518.1:n.106+12308A>G | ||
ENST00000679825.1:n.159A>G | ||
ENST00000680285.1:n.320-2702A>G | ||
ENST00000680845.1:n.159A>G | ||
ENST00000681787.1:n.106+12308A>G | ||
ENST00000681940.1:n.106+12308A>G | ||
ENST00000383070.2:c.557T>C MANE Select | ENSP00000372547.1:p.Ile186Thr | |
ENST00000383070.1:c.557T>C | ENSP00000372547.1:p.Ile186Thr | |
NM_003140.2:c.557T>C | NP_003131.1:p.Ile186Thr | |
NM_003140.3:c.557T>C MANE Select | NP_003131.1:p.Ile186Thr |