HGVS | Genome Assembly |
---|---|
NC_000011.10:g.118312812C>A , CM000673.2:g.118312812C>A | GRCh38 |
NC_000011.9:g.118183527C>A , CM000673.1:g.118183527C>A | GRCh37 |
NC_000011.8:g.117688737C>A | NCBI36 |
NG_007383.1:g.13233C>A , LRG_38:g.13233C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361763.9:c.298C>A MANE Select | ENSP00000354566.4:p.Pro100Thr | |
ENST00000361763.8:c.298C>A | ENSP00000354566.4:p.Pro100Thr | |
ENST00000526146.5:n.844C>A | ||
ENST00000528435.5:n.851C>A | ||
ENST00000528600.1:c.280C>A | ENSP00000433975.1:p.Pro94Thr | |
ENST00000529713.5:n.404C>A | ||
ENST00000531913.1:n.669C>A | ||
NM_000733.3:c.298C>A , LRG_38t1:c.298C>A | NP_000724.1:p.Pro100Thr | |
NM_000733.4:c.298C>A MANE Select | NP_000724.1:p.Pro100Thr |