Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675846A>G , CM000685.2:g.38675846A>G | GRCh38 |
| NC_000023.10:g.38535100A>G , CM000685.1:g.38535100A>G | GRCh37 |
| NC_000023.9:g.38420044A>G | NCBI36 |
| NG_009160.1:g.119370A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.583A>G MANE Select | ENSP00000367743.2:p.Lys195Glu | |
| ENST00000286824.6:c.634A>G | ENSP00000286824.6:p.Lys212Glu | |
| ENST00000378482.6:c.583A>G | ENSP00000367743.2:p.Lys195Glu | |
| ENST00000419600.3:n.527A>G | ||
| ENST00000465127.1:c.673A>G | ENSP00000417050.1:p.Lys225Glu | |
| ENST00000471410.5:c.*609A>G | ENSP00000419290.1:n.*609A>G | |
| ENST00000475216.5:c.*576A>G | ENSP00000418586.1:n.*576A>G | |
| NM_004615.3:c.583A>G | NP_004606.2:p.Lys195Glu | |
| NM_004615.4:c.583A>G MANE Select | NP_004606.2:p.Lys195Glu |