Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675849G>A , CM000685.2:g.38675849G>A | GRCh38 |
| NC_000023.10:g.38535103G>A , CM000685.1:g.38535103G>A | GRCh37 |
| NC_000023.9:g.38420047G>A | NCBI36 |
| NG_009160.1:g.119373G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.586G>A MANE Select | ENSP00000367743.2:p.Val196Ile | |
| ENST00000286824.6:c.637G>A | ENSP00000286824.6:p.Val213Ile | |
| ENST00000378482.6:c.586G>A | ENSP00000367743.2:p.Val196Ile | |
| ENST00000419600.3:n.530G>A | ||
| ENST00000465127.1:c.676G>A | ENSP00000417050.1:p.Val226Ile | |
| ENST00000471410.5:c.*612G>A | ENSP00000419290.1:n.*612G>A | |
| ENST00000475216.5:c.*579G>A | ENSP00000418586.1:n.*579G>A | |
| NM_004615.3:c.586G>A | NP_004606.2:p.Val196Ile | |
| NM_004615.4:c.586G>A MANE Select | NP_004606.2:p.Val196Ile |