HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52519752A>C , CM000674.2:g.52519752A>C | GRCh38 |
NC_000012.11:g.52913536A>C , CM000674.1:g.52913536A>C | GRCh37 |
NC_000012.10:g.51199803A>C | NCBI36 |
NG_008297.1:g.5708T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000252242.9:c.545T>G MANE Select | ENSP00000252242.4:p.Phe182Cys | |
ENST00000252242.8:c.545T>G | ENSP00000252242.4:p.Phe182Cys | |
ENST00000549420.1:c.215T>G | ENSP00000447209.1:p.Phe72Cys | |
ENST00000551275.1:c.440T>G | ENSP00000448041.1:p.Phe147Cys | |
ENST00000552629.5:n.643T>G | ||
NM_000424.3:c.545T>G | NP_000415.2:p.Phe182Cys | |
NM_000424.4:c.545T>G MANE Select | NP_000415.2:p.Phe182Cys |