HGVS | Genome Assembly |
---|---|
NC_000010.11:g.100045712G= , CM000672.2:g.100045712G= | GRCh38 |
NC_000010.10:g.101805469G= , CM000672.1:g.101805469G= | GRCh37 |
NC_000010.9:g.101795459G= | NCBI36 |
NG_012060.1:g.41174C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000370418.8:c.1230+3046C= MANE Select | ENSP00000359446.3:n.1230+3046C= | |
ENST00000370418.7:c.1230+3046C= | ENSP00000359446.3:n.1230+3046C= | |
NM_001308.2:c.1230+3046C= | NP_001299.1:n.1230+3046C= | |
XM_011539299.1:c.1272+3046C= | XP_011537601.1:n.1272+3046C= | |
NM_001308.3:c.1230+3046C= MANE Select | NP_001299.1:n.1230+3046C= |