Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.93218577A>G , CM000676.2:g.93218577A>G | GRCh38 |
| NC_000014.8:g.93684923A>G , CM000676.1:g.93684923A>G | GRCh37 |
| NC_000014.7:g.92754676A>G | NCBI36 |
| NG_051089.1:g.16522A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013070.11:c.652A>G MANE Select | ENSP00000013070.6:p.Ile218Val | |
| ENST00000013070.10:c.652A>G | ENSP00000013070.6:p.Ile218Val | |
| ENST00000416753.5:c.424A>G | ENSP00000391706.2:p.Ile142Val | |
| ENST00000553674.1:c.*353A>G | ENSP00000450470.1:n.*353A>G | |
| ENST00000553857.5:c.378+3296A>G | ||
| ENST00000556871.5:c.361A>G | ENSP00000451022.1:p.Ile121Val | |
| ENST00000557048.1:n.561A>G | ||
| NM_175748.3:c.652A>G | NP_786924.2:p.Ile218Val | |
| NR_038150.1:n.754A>G | ||
| NM_175748.4:c.652A>G MANE Select | NP_786924.2:p.Ile218Val | |
| NR_038150.2:n.554A>G |