HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659390C>G , CM000685.2:g.136659390C>G | GRCh38 |
NC_000023.10:g.135741549C>G , CM000685.1:g.135741549C>G | GRCh37 |
NC_000023.9:g.135569215C>G | NCBI36 |
NG_007280.1:g.16214C>G , LRG_141:g.16214C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695724.1:c.*379C>G | ENSP00000512122.1:n.*379C>G | |
ENST00000695725.1:c.*316C>G | ENSP00000512123.1:n.*316C>G | |
ENST00000695726.1:n.2729C>G | ||
ENST00000695729.1:n.3564C>G | ||
ENST00000370629.7:c.761C>G MANE Select | ENSP00000359663.2:p.Thr254Arg | |
ENST00000370628.2:c.698C>G | ENSP00000359662.2:p.Thr233Arg | |
ENST00000370629.6:c.761C>G | ENSP00000359663.2:p.Thr254Arg | |
NM_000074.2:c.761C>G , LRG_141t1:c.761C>G | NP_000065.1:p.Thr254Arg | |
NM_000074.3:c.761C>G MANE Select | NP_000065.1:p.Thr254Arg |