Revel Score:
ENST00000426333 (MANE Select)
0.902
ENST00000262414
0.902
ENST00000402521
0.902
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44859132A>C , CM000679.2:g.44859132A>C | GRCh38 |
| NC_000017.10:g.42936500A>C , CM000679.1:g.42936500A>C | GRCh37 |
| NC_000017.9:g.40292026A>C | NCBI36 |
| NG_032674.1:g.45494T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426333.7:c.1910T>G MANE Select | ENSP00000392094.1:p.Leu637Arg | |
| ENST00000402521.7:c.1805T>G | ENSP00000385873.2:p.Leu602Arg | |
| ENST00000426333.6:c.1910T>G | ENSP00000392094.1:p.Leu637Arg | |
| ENST00000586276.5:n.1572T>G | ||
| ENST00000590367.5:n.1638T>G | ||
| ENST00000590977.5:n.518T>G | ||
| ENST00000591382.5:c.1910T>G | ENSP00000467805.1:p.Leu637Arg | |
| ENST00000592576.5:c.1880T>G | ENSP00000465058.1:p.Leu627Arg | |
| NM_001142605.1:c.1805T>G | NP_001136077.1:p.Leu602Arg | |
| NM_001258353.1:c.1910T>G | NP_001245282.1:p.Leu637Arg | |
| NM_001258354.1:c.1880T>G | NP_001245283.1:p.Leu627Arg | |
| NM_004247.3:c.1910T>G | NP_004238.3:p.Leu637Arg | |
| XR_934602.1:n.1995T>G | ||
| XR_934602.3:n.1991T>G | ||
| NM_004247.4:c.1910T>G MANE Select | NP_004238.3:p.Leu637Arg | |
| NM_001142605.2:c.1805T>G | NP_001136077.1:p.Leu602Arg | |
| NM_001258353.2:c.1910T>G | NP_001245282.1:p.Leu637Arg | |
| NM_001258354.2:c.1880T>G | NP_001245283.1:p.Leu627Arg |