Revel Score:
ENST00000503569
0.217
ENST00000226760 (MANE Select)
0.217
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6300792G>C , CM000666.2:g.6300792G>C | GRCh38 |
| NC_000004.11:g.6302519G>C , CM000666.1:g.6302519G>C | GRCh37 |
| NC_000004.10:g.6353420G>C | NCBI36 |
| NG_011700.1:g.35943G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1033G>C | ENSP00000507852.1:p.Val345Leu | |
| ENST00000683395.1:c.974G>C | ||
| ENST00000684087.1:c.997G>C | ENSP00000506978.1:p.Val333Leu | |
| ENST00000506362.2:c.748G>C | ENSP00000424103.2:p.Val250Leu | |
| ENST00000673642.1:c.661-5G>C | ENSP00000501242.1:n.661-5G>C | |
| ENST00000673991.1:c.1033G>C | ENSP00000501033.1:p.Val345Leu | |
| ENST00000226760.5:c.997G>C MANE Select | ENSP00000226760.1:p.Val333Leu | |
| ENST00000503569.5:c.997G>C | ENSP00000423337.1:p.Val333Leu | |
| ENST00000506362.1:c.630G>C | ||
| ENST00000507765.1:n.1182G>C | ||
| ENST00000513395.1:n.555G>C | ||
| NM_001145853.1:c.997G>C | NP_001139325.1:p.Val333Leu | |
| NM_006005.3:c.997G>C MANE Select | NP_005996.2:p.Val333Leu | |
| XM_017008586.1:c.1006G>C | XP_016864075.1:p.Val336Leu |