HGVS | Genome Assembly |
---|---|
NC_000022.11:g.43946195C>G , CM000684.2:g.43946195C>G | GRCh38 |
NC_000022.10:g.44342075C>G , CM000684.1:g.44342075C>G | GRCh37 |
NC_000022.9:g.42673408C>G | NCBI36 |
NG_008631.1:g.27457C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000216180.8:c.1259C>G MANE Select | ENSP00000216180.3:p.Thr420Arg | |
ENST00000216180.7:c.1259C>G | ENSP00000216180.3:p.Thr420Arg | |
ENST00000406117.6:c.*849+1400C>G | ENSP00000384668.2:n.*849+1400C>G | |
ENST00000423180.2:c.1247C>G | ENSP00000397987.2:p.Thr416Arg | |
NM_025225.2:c.1259C>G | NP_079501.2:p.Thr420Arg | |
NM_025225.3:c.1259C>G MANE Select | NP_079501.2:p.Thr420Arg |