HGVS | Genome Assembly |
---|---|
NC_000001.11:g.100539847T>G , CM000663.2:g.100539847T>G | GRCh38 |
NC_000001.10:g.101005403T>G , CM000663.1:g.101005403T>G | GRCh37 |
NC_000001.9:g.100777991T>G | NCBI36 |
NG_053134.1:g.6676T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000315033.5:c.881T>G MANE Select | ENSP00000314223.4:p.Leu294Arg | |
ENST00000315033.4:c.881T>G | ENSP00000314223.4:p.Leu294Arg | |
NM_022049.2:c.881T>G | NP_071332.2:p.Leu294Arg | |
NM_022049.3:c.881T>G MANE Select | NP_071332.2:p.Leu294Arg |