Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.93218601C>A , CM000676.2:g.93218601C>A | GRCh38 |
| NC_000014.8:g.93684947C>A , CM000676.1:g.93684947C>A | GRCh37 |
| NC_000014.7:g.92754700C>A | NCBI36 |
| NG_051089.1:g.16546C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013070.11:c.676C>A MANE Select | ENSP00000013070.6:p.Pro226Thr | |
| ENST00000013070.10:c.676C>A | ENSP00000013070.6:p.Pro226Thr | |
| ENST00000416753.5:c.448C>A | ENSP00000391706.2:p.Pro150Thr | |
| ENST00000553674.1:c.*377C>A | ENSP00000450470.1:n.*377C>A | |
| ENST00000553857.5:c.378+3320C>A | ||
| ENST00000556871.5:c.385C>A | ENSP00000451022.1:p.Pro129Thr | |
| NM_175748.3:c.676C>A | NP_786924.2:p.Pro226Thr | |
| NR_038150.1:n.778C>A | ||
| NM_175748.4:c.676C>A MANE Select | NP_786924.2:p.Pro226Thr | |
| NR_038150.2:n.578C>A |