HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52519909G>T , CM000674.2:g.52519909G>T | GRCh38 |
NC_000012.11:g.52913693G>T , CM000674.1:g.52913693G>T | GRCh37 |
NC_000012.10:g.51199960G>T | NCBI36 |
NG_008297.1:g.5551C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.388C>A MANE Select | ENSP00000252242.4:p.Pro130Thr | |
ENST00000252242.8:c.388C>A | ENSP00000252242.4:p.Pro130Thr | |
ENST00000546577.1:c.388C>A | ENSP00000449651.1:p.Pro130Thr | |
ENST00000549420.1:c.58C>A | ENSP00000447209.1:p.Pro20Thr | |
ENST00000551275.1:c.283C>A | ENSP00000448041.1:p.Pro95Thr | |
ENST00000552629.5:n.486C>A | ||
NM_000424.3:c.388C>A | NP_000415.2:p.Pro130Thr | |
NM_000424.4:c.388C>A MANE Select | NP_000415.2:p.Pro130Thr |