HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42904033T>G , CM000679.2:g.42904033T>G | GRCh38 |
NC_000017.10:g.41056050T>G , CM000679.1:g.41056050T>G | GRCh37 |
NC_000017.9:g.38309576T>G | NCBI36 |
NG_011808.1:g.8236T>G , LRG_147:g.8236T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000253801.7:c.333T>G MANE Select | ENSP00000253801.1:p.Thr111= | |
ENST00000253801.6:c.333T>G | ENSP00000253801.1:p.Thr111= | |
ENST00000585489.1:c.333T>G | ENSP00000466202.1:p.Thr111= | |
ENST00000588481.1:n.398T>G | ||
ENST00000592383.5:c.333T>G | ENSP00000465958.1:p.Thr111= | |
NM_000151.3:c.333T>G | NP_000142.2:p.Thr111= | |
NM_001270397.1:c.333T>G | NP_001257326.1:p.Thr111= | |
NM_000151.4:c.333T>G MANE Select | NP_000142.2:p.Thr111= | |
NM_001270397.2:c.333T>G | NP_001257326.1:p.Thr111= |