HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154187956T>G , CM000685.2:g.154187956T>G | GRCh38 |
NC_000023.10:g.153453445T>G , CM000685.1:g.153453445T>G | GRCh37 |
NG_011606.1:g.10361T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000595290.6:c.299T>G MANE Select | ENSP00000472316.1:p.Leu100Arg | |
ENST00000595290.5:c.299T>G | ENSP00000472316.1:p.Leu100Arg | |
ENST00000595330.1:n.309T>G | ||
NM_000513.2:c.299T>G MANE Select | NP_000504.1:p.Leu100Arg |