HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32443210A>G , CM000668.2:g.32443210A>G | GRCh38 |
NC_000006.11:g.32410987A>G , CM000668.1:g.32410987A>G | GRCh37 |
NC_000006.10:g.32518965A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395388.7:c.354A>G MANE Select | ENSP00000378786.2:p.Thr118= | |
ENST00000374982.5:c.329-50A>G | ENSP00000364121.5:n.329-50A>G | |
ENST00000395388.6:c.354A>G | ENSP00000378786.2:p.Thr118= | |
NM_019111.4:c.354A>G | NP_061984.2:p.Thr118= | |
NM_019111.5:c.354A>G MANE Select | NP_061984.2:p.Thr118= |