Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312662C>A , CM000673.2:g.118312662C>A | GRCh38 |
| NC_000011.9:g.118183377C>A , CM000673.1:g.118183377C>A | GRCh37 |
| NC_000011.8:g.117688587C>A | NCBI36 |
| NG_007383.1:g.13083C>A , LRG_38:g.13083C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.148C>A MANE Select | ENSP00000354566.4:p.Pro50Thr | |
| ENST00000361763.8:c.148C>A | ENSP00000354566.4:p.Pro50Thr | |
| ENST00000526146.5:n.694C>A | ||
| ENST00000528435.5:n.701C>A | ||
| ENST00000528600.1:c.130C>A | ENSP00000433975.1:p.Pro44Thr | |
| ENST00000529713.5:n.254C>A | ||
| ENST00000531913.1:n.519C>A | ||
| NM_000733.3:c.148C>A , LRG_38t1:c.148C>A | NP_000724.1:p.Pro50Thr | |
| NM_000733.4:c.148C>A MANE Select | NP_000724.1:p.Pro50Thr |