HGVS | Genome Assembly |
---|---|
NC_000003.12:g.120633178A>C , CM000665.2:g.120633178A>C | GRCh38 |
NC_000003.11:g.120352025A>C , CM000665.1:g.120352025A>C | GRCh37 |
NC_000003.10:g.121834715A>C | NCBI36 |
NG_011957.1:g.54304T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000283871.10:c.1157T>G MANE Select | ENSP00000283871.5:p.Leu386Arg | |
ENST00000283871.9:c.1157T>G | ENSP00000283871.5:p.Leu386Arg | |
ENST00000470321.1:n.497T>G | ||
ENST00000492108.5:c.436T>G | ENSP00000419838.1:n.436T>G | |
NM_000187.3:c.1157T>G | NP_000178.2:p.Leu386Arg | |
XM_005247412.1:c.932T>G | XP_005247469.1:p.Leu311Arg | |
XM_005247412.2:c.932T>G | XP_005247469.1:p.Leu311Arg | |
XM_017006277.2:c.734T>G | XP_016861766.1:p.Leu245Arg | |
NM_000187.4:c.1157T>G MANE Select | NP_000178.2:p.Leu386Arg |