HGVS | Genome Assembly |
---|---|
NC_000004.12:g.43030535G>C , CM000666.2:g.43030535G>C | GRCh38 |
NC_000004.11:g.43032552G>C , CM000666.1:g.43032552G>C | GRCh37 |
NC_000004.10:g.42727309G>C | NCBI36 |
NG_027718.1:g.142270G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000399770.3:c.868G>C MANE Select | ENSP00000382670.2:p.Gly290Arg | |
ENST00000399770.2:c.868G>C | ENSP00000382670.2:p.Gly290Arg | |
NM_001080476.2:c.868G>C | NP_001073945.1:p.Gly290Arg | |
XM_011513691.1:c.505G>C | XP_011511993.1:p.Gly169Arg | |
NM_001080476.3:c.868G>C MANE Select | NP_001073945.1:p.Gly290Arg |