HGVS | Genome Assembly |
---|---|
NC_000003.12:g.33114560T>G , CM000665.2:g.33114560T>G | GRCh38 |
NC_000003.11:g.33156052T>G , CM000665.1:g.33156052T>G | GRCh37 |
NC_000003.10:g.33131056T>G | NCBI36 |
NG_008122.1:g.5603T>G , LRG_4:g.5603T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320954.11:c.471+12T>G MANE Select | ENSP00000323696.5:n.471+12T>G | |
ENST00000320954.10:c.471+12T>G | ENSP00000323696.5:n.471+12T>G | |
ENST00000449224.1:c.471+12T>G | ENSP00000409997.1:n.471+12T>G | |
NM_006371.4:c.471+12T>G , LRG_4t1:c.471+12T>G | NP_006362.1:n.471+12T>G | |
NM_006371.5:c.471+12T>G MANE Select | NP_006362.1:n.471+12T>G | |
NM_001393363.1:c.471+12T>G | NP_001380292.1:n.471+12T>G | |
NM_001393364.1:c.471+12T>G | NP_001380293.1:n.471+12T>G | |
NM_001393365.1:c.471+12T>G | NP_001380294.1:n.471+12T>G |