HGVS | Genome Assembly |
---|---|
NC_000010.11:g.70435542A>C , CM000672.2:g.70435542A>C | GRCh38 |
NC_000010.10:g.72195298A>C , CM000672.1:g.72195298A>C | GRCh37 |
NC_000010.9:g.71865304A>C | NCBI36 |
NG_012448.1:g.11168T>G | |
NG_012448.2:g.17407T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000287139.8:c.635T>G MANE Select | ENSP00000287139.3:p.Leu212Trp | |
ENST00000287139.7:c.635T>G | ENSP00000287139.3:p.Leu212Trp | |
ENST00000414871.1:c.470T>G | ENSP00000394468.1:p.Leu157Trp | |
NM_018055.4:c.635T>G | NP_060525.3:p.Leu212Trp | |
NM_001329906.1:c.236T>G | NP_001316835.1:p.Leu79Trp | |
XM_024448028.1:c.236T>G | XP_024303796.1:p.Leu79Trp | |
NM_018055.5:c.635T>G MANE Select | NP_060525.3:p.Leu212Trp | |
NM_001329906.2:c.236T>G | NP_001316835.1:p.Leu79Trp |