Revel Score:
ENST00000380259
0.641
ENST00000336906 (MANE Select)
0.641
ENST00000380247
0.641
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5254683A>G , CM000673.2:g.5254683A>G | GRCh38 |
| NC_000011.9:g.5275913A>G , CM000673.1:g.5275913A>G | GRCh37 |
| NC_000011.8:g.5232489A>G | NCBI36 |
| NG_000007.3:g.42933T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336906.6:c.46T>C MANE Select | ENSP00000338082.4:p.Trp16Arg | |
| ENST00000380252.6:c.-73-169T>C | ENSP00000369602.2:n.-73-169T>C | |
| ENST00000380259.7:c.1592T>C | ENSP00000369609.3:n.1592T>C | |
| ENST00000642908.1:c.46T>C | ENSP00000495346.1:p.Trp16Arg | |
| ENST00000647543.1:c.46T>C | ENSP00000496470.1:p.Trp16Arg | |
| ENST00000336906.4:c.46T>C | ENSP00000338082.4:p.Trp16Arg | |
| ENST00000380252.5:c.63-169T>C | ENSP00000369602.1:n.63-169T>C | |
| ENST00000380259.6:c.46T>C | ENSP00000369609.2:p.Trp16Arg | |
| ENST00000444587.1:c.46T>C | ENSP00000488218.1:p.Trp16Arg | |
| ENST00000620888.4:c.46T>C | ENSP00000479637.1:p.Trp16Arg | |
| ENST00000624109.1:c.312A>G | ENSP00000485458.1:p.Pro104= | |
| NM_000184.2:c.46T>C | NP_000175.1:p.Trp16Arg | |
| NM_000184.3:c.46T>C MANE Select | NP_000175.1:p.Trp16Arg |