Revel Score:
ENST00000316623 (MANE Select)
0.685
ENST00000389087
0.685
ENST00000544030
0.685
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48446768A>G , CM000677.2:g.48446768A>G | GRCh38 |
| NC_000015.9:g.48738965A>G , CM000677.1:g.48738965A>G | GRCh37 |
| NC_000015.8:g.46526257A>G | NCBI36 |
| NG_008805.2:g.204021T>C , LRG_778:g.204021T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5726T>C | ENSP00000453958.2:p.Ile1909Thr | |
| ENST00000674301.2:c.5726T>C | ENSP00000501333.2:p.Ile1909Thr | |
| ENST00000684448.1:n.4400T>C | ||
| ENST00000316623.10:c.5726T>C MANE Select | ENSP00000325527.5:p.Ile1909Thr | |
| ENST00000674301.1:c.725T>C | ENSP00000501333.1:p.Ile242Thr | |
| ENST00000316623.9:c.5726T>C | ENSP00000325527.5:p.Ile1909Thr | |
| ENST00000537463.6:c.*1489T>C | ENSP00000440294.2:n.*1489T>C | |
| ENST00000559133.5:c.1033T>C | ||
| NM_000138.4:c.5726T>C , LRG_778t1:c.5726T>C | NP_000129.3:p.Ile1909Thr | |
| NM_000138.5:c.5726T>C MANE Select | NP_000129.3:p.Ile1909Thr |