HGVS | Genome Assembly |
---|---|
NC_000005.10:g.111119015T>G , CM000667.2:g.111119015T>G | GRCh38 |
NC_000005.9:g.110454713T>G , CM000667.1:g.110454713T>G | GRCh37 |
NC_000005.8:g.110482612T>G | NCBI36 |
NG_008979.1:g.31844T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000513710.4:c.1799T>G MANE Select | ENSP00000424628.3:p.Leu600Arg | |
ENST00000506538.6:c.1967T>G | ENSP00000423067.2:p.Leu656Arg | |
ENST00000513710.3:c.1799T>G | ENSP00000424628.3:p.Leu600Arg | |
ENST00000612402.4:c.1967T>G | ENSP00000479950.1:p.Leu656Arg | |
NM_139281.2:c.1967T>G | NP_644810.1:p.Leu656Arg | |
XM_011543163.1:c.1967T>G | XP_011541465.1:p.Leu656Arg | |
NM_139281.3:c.1799T>G MANE Select | NP_644810.2:p.Leu600Arg |