HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67586549T>G , CM000673.2:g.67586549T>G | GRCh38 |
NC_000011.9:g.67354020T>G , CM000673.1:g.67354020T>G | GRCh37 |
NC_000011.8:g.67110596T>G | NCBI36 |
NG_012075.1:g.7955T>G , LRG_723:g.7955T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398603.6:c.497T>G | ENSP00000381604.1:p.Leu166Arg | |
ENST00000398606.10:c.605T>G MANE Select | ENSP00000381607.3:p.Leu202Arg | |
ENST00000398603.5:c.497T>G | ENSP00000381604.1:p.Leu166Arg | |
ENST00000398606.7:c.605T>G | ENSP00000381607.3:p.Leu202Arg | |
ENST00000467591.1:n.716T>G | ||
ENST00000494593.1:n.1577T>G | ||
ENST00000498765.5:c.668T>G | ||
NM_000852.3:c.605T>G , LRG_723t1:c.605T>G | NP_000843.1:p.Leu202Arg | |
NM_000852.4:c.605T>G MANE Select | NP_000843.1:p.Leu202Arg |