HGVS | Genome Assembly |
---|---|
NC_000001.11:g.84400048A>G , CM000663.2:g.84400048A>G | GRCh38 |
NC_000001.10:g.84865731A>G , CM000663.1:g.84865731A>G | GRCh37 |
NC_000001.9:g.84638319A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370665.4:c.125+1359A>G MANE Select | ENSP00000359699.3:n.125+1359A>G | |
ENST00000370665.3:c.125+1359A>G | ENSP00000359699.3:n.125+1359A>G | |
NM_021233.2:c.125+1359A>G | NP_067056.2:n.125+1359A>G | |
NM_021233.3:c.125+1359A>G MANE Select | NP_067056.2:n.125+1359A>G |