HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31270260G>C , CM000668.2:g.31270260G>C | GRCh38 |
NC_000006.11:g.31238037G>C , CM000668.1:g.31238037G>C | GRCh37 |
NC_000006.10:g.31346016G>C | NCBI36 |
NG_029422.2:g.6872C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.845C>G MANE Select | ENSP00000365402.5:p.Thr282Arg | |
ENST00000376228.9:c.845C>G | ENSP00000365402.5:p.Thr282Arg | |
ENST00000376237.8:c.*432C>G | ENSP00000365412.4:n.*432C>G | |
ENST00000383329.7:c.845C>G | ENSP00000372819.3:p.Thr282Arg | |
ENST00000415537.1:c.736C>G | ||
ENST00000470363.5:n.163C>G | ||
ENST00000487245.5:n.1204C>G | ||
ENST00000495835.1:n.1034C>G | ||
NM_002117.5:c.845C>G | NP_002108.4:p.Thr282Arg | |
NM_002117.6:c.845C>G MANE Select | NP_002108.4:p.Thr282Arg |