HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42901181G>A , CM000679.2:g.42901181G>A | GRCh38 |
NC_000017.10:g.41053198G>A , CM000679.1:g.41053198G>A | GRCh37 |
NC_000017.9:g.38306724G>A | NCBI36 |
NG_011808.1:g.5384G>A , LRG_147:g.5384G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253801.7:c.230+75G>A MANE Select | ENSP00000253801.1:n.230+75G>A | |
ENST00000253801.6:c.230+75G>A | ENSP00000253801.1:n.230+75G>A | |
ENST00000585489.1:c.230+75G>A | ENSP00000466202.1:n.230+75G>A | |
ENST00000588481.1:n.295+75G>A | ||
ENST00000592383.5:c.230+75G>A | ENSP00000465958.1:n.230+75G>A | |
NM_000151.3:c.230+75G>A | NP_000142.2:n.230+75G>A | |
NM_001270397.1:c.230+75G>A | NP_001257326.1:n.230+75G>A | |
NM_000151.4:c.230+75G>A MANE Select | NP_000142.2:n.230+75G>A | |
NM_001270397.2:c.230+75G>A | NP_001257326.1:n.230+75G>A |