HGVS | Genome Assembly |
---|---|
NC_000011.10:g.112228626T>G , CM000673.2:g.112228626T>G | GRCh38 |
NC_000011.9:g.112099349T>G , CM000673.1:g.112099349T>G | GRCh37 |
NC_000011.8:g.111604559T>G | NCBI36 |
NG_008743.1:g.7262T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000280362.8:c.116T>G MANE Select | ENSP00000280362.3:p.Leu39Arg | |
ENST00000280362.7:c.116T>G | ENSP00000280362.3:p.Leu39Arg | |
ENST00000524931.1:c.-89T>G | ENSP00000434688.1:n.-89T>G | |
ENST00000525645.1:n.191T>G | ||
ENST00000525803.1:c.116T>G | ENSP00000431750.1:p.Leu39Arg | |
ENST00000528679.5:c.116T>G | ENSP00000435895.1:p.Leu39Arg | |
ENST00000531673.5:c.116T>G | ENSP00000433469.1:p.Leu39Arg | |
NM_000317.2:c.116T>G | NP_000308.1:p.Leu39Arg | |
NM_000317.3:c.116T>G MANE Select | NP_000308.1:p.Leu39Arg |