Revel Score:
ENST00000316623 (MANE Select)
0.566
ENST00000389087
0.566
ENST00000544030
0.566
gnomAD v3:
gnomAD v4:
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48434711T>G , CM000677.2:g.48434711T>G | GRCh38 |
| NC_000015.9:g.48726908T>G , CM000677.1:g.48726908T>G | GRCh37 |
| NC_000015.8:g.46514200T>G | NCBI36 |
| NG_008805.2:g.216078A>C , LRG_778:g.216078A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6499A>C | ENSP00000453958.2:p.Thr2167Pro | |
| ENST00000674301.2:c.6499A>C | ENSP00000501333.2:p.Thr2167Pro | |
| ENST00000682170.1:n.108A>C | ||
| ENST00000316623.10:c.6499A>C MANE Select | ENSP00000325527.5:p.Thr2167Pro | |
| ENST00000674301.1:c.1498A>C | ENSP00000501333.1:p.Thr500Pro | |
| ENST00000316623.9:c.6499A>C | ENSP00000325527.5:p.Thr2167Pro | |
| ENST00000537463.6:c.*2262A>C | ENSP00000440294.2:n.*2262A>C | |
| ENST00000559133.5:c.1806A>C | ||
| NM_000138.4:c.6499A>C , LRG_778t1:c.6499A>C | NP_000129.3:p.Thr2167Pro | |
| NM_000138.5:c.6499A>C MANE Select | NP_000129.3:p.Thr2167Pro |