HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42909393T>A , CM000679.2:g.42909393T>A | GRCh38 |
NC_000017.10:g.41061410T>A , CM000679.1:g.41061410T>A | GRCh37 |
NC_000017.9:g.38314936T>A | NCBI36 |
NG_011808.1:g.13596T>A , LRG_147:g.13596T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253801.7:c.537T>A MANE Select | ENSP00000253801.1:p.His179Gln | |
ENST00000253801.6:c.537T>A | ENSP00000253801.1:p.His179Gln | |
ENST00000585489.1:c.447-1522T>A | ENSP00000466202.1:n.447-1522T>A | |
ENST00000592383.5:c.460T>A | ENSP00000465958.1:p.Ser154Thr | |
NM_000151.3:c.537T>A | NP_000142.2:p.His179Gln | |
NM_001270397.1:c.460T>A | NP_001257326.1:p.Ser154Thr | |
NM_000151.4:c.537T>A MANE Select | NP_000142.2:p.His179Gln | |
NM_001270397.2:c.460T>A | NP_001257326.1:p.Ser154Thr |