HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133352479C>G , CM000671.2:g.133352479C>G | GRCh38 |
NC_000009.10:g.135209155C>G | NCBI36 |
NG_008477.1:g.9028G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371974.8:c.718G>C MANE Select | ENSP00000361042.3:p.Gly240Arg | |
ENST00000371974.7:c.718G>C | ENSP00000361042.3:p.Gly240Arg | |
ENST00000437995.1:n.628G>C | ||
ENST00000495952.5:n.708G>C | ||
ENST00000615505.4:c.391G>C | ENSP00000482067.1:p.Gly131Arg | |
NM_001280787.1:c.391G>C | NP_001267716.1:p.Gly131Arg | |
NM_003172.3:c.718G>C | NP_003163.1:p.Gly240Arg | |
XM_011518942.1:c.391G>C | XP_011517244.1:p.Gly131Arg | |
NM_003172.4:c.718G>C MANE Select | NP_003163.1:p.Gly240Arg |