HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86739708A>C , CM000670.2:g.86739708A>C | GRCh38 |
NC_000008.10:g.87751936A>C , CM000670.1:g.87751936A>C | GRCh37 |
NC_000008.9:g.87821052A>C | NCBI36 |
NG_016980.1:g.8968T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320005.6:c.158T>G MANE Select | ENSP00000316605.5:p.Leu53Arg | |
ENST00000681746.1:c.158T>G | ENSP00000505959.1:p.Leu53Arg | |
ENST00000320005.5:c.158T>G | ENSP00000316605.5:p.Leu53Arg | |
ENST00000519777.1:n.140T>G | ||
NM_019098.4:c.158T>G | NP_061971.3:p.Leu53Arg | |
NM_019098.5:c.158T>G MANE Select | NP_061971.3:p.Leu53Arg |