Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675840G>C , CM000685.2:g.38675840G>C | GRCh38 |
| NC_000023.10:g.38535094G>C , CM000685.1:g.38535094G>C | GRCh37 |
| NC_000023.9:g.38420038G>C | NCBI36 |
| NG_009160.1:g.119364G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.577G>C MANE Select | ENSP00000367743.2:p.Ala193Pro | |
| ENST00000286824.6:c.628G>C | ENSP00000286824.6:p.Ala210Pro | |
| ENST00000378482.6:c.577G>C | ENSP00000367743.2:p.Ala193Pro | |
| ENST00000419600.3:n.521G>C | ||
| ENST00000465127.1:c.667G>C | ENSP00000417050.1:p.Ala223Pro | |
| ENST00000471410.5:c.*603G>C | ENSP00000419290.1:n.*603G>C | |
| ENST00000475216.5:c.*570G>C | ENSP00000418586.1:n.*570G>C | |
| NM_004615.3:c.577G>C | NP_004606.2:p.Ala193Pro | |
| NM_004615.4:c.577G>C MANE Select | NP_004606.2:p.Ala193Pro |