Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508734A>G , CM000672.2:g.122508734A>G | GRCh38 |
| NC_000010.10:g.124268250A>G , CM000672.1:g.124268250A>G | GRCh37 |
| NC_000010.9:g.124258240A>G | NCBI36 |
| NG_011554.1:g.52210A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1084A>G MANE Select | ENSP00000357980.3:p.Lys362Glu | |
| ENST00000648167.1:c.766A>G | ENSP00000498033.1:p.Lys256Glu | |
| ENST00000368984.7:c.1084A>G | ENSP00000357980.3:p.Lys362Glu | |
| ENST00000420892.1:c.307A>G | ENSP00000412676.1:p.Lys103Glu | |
| NM_002775.4:c.1084A>G | NP_002766.1:p.Lys362Glu | |
| NM_002775.5:c.1084A>G MANE Select | NP_002766.1:p.Lys362Glu |