HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42911388G>A , CM000679.2:g.42911388G>A | GRCh38 |
NC_000017.10:g.41063405G>A , CM000679.1:g.41063405G>A | GRCh37 |
NC_000017.9:g.38316931G>A | NCBI36 |
NG_011808.1:g.15591G>A , LRG_147:g.15591G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253801.7:c.1036G>A MANE Select | ENSP00000253801.1:p.Ala346Thr | |
ENST00000253801.6:c.1036G>A | ENSP00000253801.1:p.Ala346Thr | |
ENST00000585489.1:c.*428G>A | ENSP00000466202.1:n.*428G>A | |
NM_000151.3:c.1036G>A | NP_000142.2:p.Ala346Thr | |
NM_001270397.1:c.*428G>A | NP_001257326.1:n.*428G>A | |
NM_000151.4:c.1036G>A MANE Select | NP_000142.2:p.Ala346Thr | |
NM_001270397.2:c.*428G>A | NP_001257326.1:n.*428G>A |