HGVS | Genome Assembly |
---|---|
NC_000010.11:g.133538807T>G , CM000672.2:g.133538807T>G | GRCh38 |
NC_000010.10:g.135352311T>G , CM000672.1:g.135352311T>G | GRCh37 |
NC_000010.9:g.135202301T>G | NCBI36 |
NG_008383.1:g.16445T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252945.8:c.1325T>G MANE Select | ENSP00000252945.3:p.Leu442Arg | |
ENST00000252945.7:c.1325T>G | ENSP00000252945.3:p.Leu442Arg | |
ENST00000368520.1:n.1358+915T>G | ||
ENST00000418356.1:c.914T>G | ENSP00000397299.1:p.Leu305Arg | |
ENST00000421586.5:c.1064T>G | ENSP00000412754.1:p.Leu355Arg | |
ENST00000463117.6:c.1325T>G | ENSP00000440689.1:p.Leu442Arg | |
ENST00000469258.1:n.421T>G | ||
ENST00000541080.5:c.741T>G | ||
NM_000773.3:c.1325T>G | NP_000764.1:p.Leu442Arg | |
NM_000773.4:c.1325T>G MANE Select | NP_000764.1:p.Leu442Arg |