Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675850T>C , CM000685.2:g.38675850T>C | GRCh38 |
| NC_000023.10:g.38535104T>C , CM000685.1:g.38535104T>C | GRCh37 |
| NC_000023.9:g.38420048T>C | NCBI36 |
| NG_009160.1:g.119374T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.587T>C MANE Select | ENSP00000367743.2:p.Val196Ala | |
| ENST00000286824.6:c.638T>C | ENSP00000286824.6:p.Val213Ala | |
| ENST00000378482.6:c.587T>C | ENSP00000367743.2:p.Val196Ala | |
| ENST00000419600.3:n.531T>C | ||
| ENST00000465127.1:c.677T>C | ENSP00000417050.1:p.Val226Ala | |
| ENST00000471410.5:c.*613T>C | ENSP00000419290.1:n.*613T>C | |
| ENST00000475216.5:c.*580T>C | ENSP00000418586.1:n.*580T>C | |
| NM_004615.3:c.587T>C | NP_004606.2:p.Val196Ala | |
| NM_004615.4:c.587T>C MANE Select | NP_004606.2:p.Val196Ala |