Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.93218666T>G , CM000676.2:g.93218666T>G | GRCh38 |
| NC_000014.8:g.93685012T>G , CM000676.1:g.93685012T>G | GRCh37 |
| NC_000014.7:g.92754765T>G | NCBI36 |
| NG_051089.1:g.16611T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013070.11:c.741T>G MANE Select | ENSP00000013070.6:p.Asp247Glu | |
| ENST00000013070.10:c.741T>G | ENSP00000013070.6:p.Asp247Glu | |
| ENST00000416753.5:c.513T>G | ENSP00000391706.2:p.Asp171Glu | |
| ENST00000553674.1:c.*442T>G | ENSP00000450470.1:n.*442T>G | |
| ENST00000553857.5:c.378+3385T>G | ||
| ENST00000556871.5:c.450T>G | ENSP00000451022.1:p.Asp150Glu | |
| NM_175748.3:c.741T>G | NP_786924.2:p.Asp247Glu | |
| NR_038150.1:n.843T>G | ||
| NM_175748.4:c.741T>G MANE Select | NP_786924.2:p.Asp247Glu | |
| NR_038150.2:n.643T>G |