HGVS | Genome Assembly |
---|---|
NC_000008.11:g.96309607A>G , CM000670.2:g.96309607A>G | GRCh38 |
NC_000008.10:g.97321835A>G , CM000670.1:g.97321835A>G | GRCh37 |
NC_000008.9:g.97391011A>G | NCBI36 |
NG_034054.1:g.52722A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000517309.6:c.1058A>G MANE Select | ENSP00000430548.1:p.Gln353Arg | |
ENST00000337004.8:c.*561A>G | ENSP00000337331.4:n.*561A>G | |
ENST00000517309.5:c.1058A>G | ENSP00000430548.1:p.Gln353Arg | |
ENST00000522072.1:c.449A>G | ENSP00000430928.1:p.Gln150Arg | |
NM_001290225.1:c.620A>G | NP_001277154.1:p.Gln207Arg | |
NM_014754.2:c.1058A>G | NP_055569.1:p.Gln353Arg | |
NM_001290225.2:c.620A>G | NP_001277154.1:p.Gln207Arg | |
NM_014754.3:c.1058A>G MANE Select | NP_055569.1:p.Gln353Arg |