Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94423071C>A , CM000669.2:g.94423071C>A | GRCh38 |
| NC_000007.13:g.94052383C>A , CM000669.1:g.94052383C>A | GRCh37 |
| NC_000007.12:g.93890319C>A | NCBI36 |
| NG_007405.1:g.33511C>A , LRG_2:g.33511C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2518C>A MANE Select | ENSP00000297268.6:p.Pro840Thr | |
| ENST00000297268.10:c.2518C>A | ENSP00000297268.6:p.Pro840Thr | |
| ENST00000481570.5:n.601C>A | ||
| ENST00000497316.5:n.915C>A | ||
| ENST00000620463.1:c.2512C>A | ENSP00000477719.1:p.Pro838Thr | |
| NM_000089.3:c.2518C>A , LRG_2t1:c.2518C>A | NP_000080.2:p.Pro840Thr | |
| NM_000089.4:c.2518C>A MANE Select | NP_000080.2:p.Pro840Thr |