Revel Score:
ENST00000298925
0.126
ENST00000357134 (MANE Select)
0.126
ENST00000325319
0.126
ENST00000532434
0.126
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20783740G>T , CM000673.2:g.20783740G>T | GRCh38 |
| NC_000011.9:g.20805286G>T , CM000673.1:g.20805286G>T | GRCh37 |
| NC_000011.8:g.20761862G>T | NCBI36 |
| NG_047064.1:g.119190G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357134.10:c.245G>T MANE Select | ENSP00000349654.5:p.Arg82Leu | |
| ENST00000298925.9:c.329G>T | ENSP00000298925.5:p.Arg110Leu | |
| ENST00000325319.9:c.245G>T | ENSP00000317837.5:p.Arg82Leu | |
| ENST00000357134.9:c.245G>T | ENSP00000349654.5:p.Arg82Leu | |
| ENST00000524738.1:n.72G>T | ||
| ENST00000527873.5:n.266G>T | ||
| ENST00000528046.5:n.428G>T | ||
| ENST00000529595.1:n.133G>T | ||
| ENST00000532434.5:c.245G>T | ENSP00000437170.1:p.Arg82Leu | |
| ENST00000619031.4:c.-468G>T | ENSP00000479479.1:n.-468G>T | |
| NM_001288713.1:c.329G>T | NP_001275642.1:p.Arg110Leu | |
| NM_001288714.1:c.245G>T | NP_001275643.1:p.Arg82Leu | |
| NM_006157.4:c.245G>T | NP_006148.2:p.Arg82Leu | |
| NM_201551.2:c.245G>T | NP_963845.1:p.Arg82Leu | |
| NM_006157.5:c.245G>T MANE Select | NP_006148.2:p.Arg82Leu |