HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32443844T>G , CM000668.2:g.32443844T>G | GRCh38 |
NC_000006.11:g.32411621T>G , CM000668.1:g.32411621T>G | GRCh37 |
NC_000006.10:g.32519599T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395388.7:c.699T>G MANE Select | ENSP00000378786.2:p.Ile233Met | |
ENST00000374982.5:c.624T>G | ENSP00000364121.5:p.Ile208Met | |
ENST00000395388.6:c.699T>G | ENSP00000378786.2:p.Ile233Met | |
NM_019111.4:c.699T>G | NP_061984.2:p.Ile233Met | |
NM_019111.5:c.699T>G MANE Select | NP_061984.2:p.Ile233Met |