HGVS | Genome Assembly |
---|---|
NC_000017.11:g.30211424C>A , CM000679.2:g.30211424C>A | GRCh38 |
NC_000017.10:g.28538442C>A , CM000679.1:g.28538442C>A | GRCh37 |
NC_000017.9:g.25562568C>A | NCBI36 |
NG_011747.2:g.29513G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000650711.1:c.1205G>T MANE Select | ENSP00000498537.1:p.Gly402Val | |
ENST00000261707.7:c.1205G>T | ENSP00000261707.3:p.Gly402Val | |
ENST00000394821.2:c.1205G>T | ENSP00000378298.2:p.Gly402Val | |
ENST00000401766.6:c.1205G>T | ENSP00000385822.2:p.Gly402Val | |
NM_001045.5:c.1205G>T | NP_001036.1:p.Gly402Val | |
NM_001045.6:c.1205G>T MANE Select | NP_001036.1:p.Gly402Val |