ClinVar Variation:
dbSNP:
Revel Score:
ENST00000245816 (MANE Select)
0.936
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6364517A>C , CM000681.2:g.6364517A>C | GRCh38 |
| NC_000019.9:g.6364528A>C , CM000681.1:g.6364528A>C | GRCh37 |
| NC_000019.8:g.6315528A>C | NCBI36 |
| NG_033887.1:g.8066A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245816.11:c.433A>C MANE Select | ENSP00000245816.3:p.Thr145Pro | |
| ENST00000596605.2:c.151-1741A>C | ||
| ENST00000597326.6:c.244A>C | ||
| ENST00000245816.8:c.433A>C | ENSP00000245816.3:p.Thr145Pro | |
| ENST00000594780.1:n.334A>C | ||
| ENST00000596070.1:n.948A>C | ||
| ENST00000596149.5:c.172A>C | ENSP00000472227.1:p.Thr58Pro | |
| ENST00000596605.1:c.107-1741A>C | ENSP00000469124.1:n.107-1741A>C | |
| ENST00000597326.5:c.244A>C | ENSP00000470098.1:p.Thr82Pro | |
| NM_006012.2:c.433A>C | NP_006003.1:p.Thr145Pro | |
| NM_006012.3:c.433A>C | NP_006003.1:p.Thr145Pro | |
| NM_006012.4:c.433A>C MANE Select | NP_006003.1:p.Thr145Pro |