Revel Score:
ENST00000342988 (MANE Select)
0.969
ENST00000544926
0.969
ENST00000398417
0.969
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51065437T>C , CM000680.2:g.51065437T>C | GRCh38 |
| NC_000018.9:g.48591807T>C , CM000680.1:g.48591807T>C | GRCh37 |
| NC_000018.8:g.46845805T>C | NCBI36 |
| NG_013013.2:g.102398T>C , LRG_318:g.102398T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.970T>C | ENSP00000465878.2:p.Cys324Arg | |
| ENST00000589076.6:c.970T>C | ENSP00000466934.2:p.Cys324Arg | |
| ENST00000589941.2:c.970T>C | ENSP00000465874.2:p.Cys324Arg | |
| ENST00000590061.2:c.970T>C | ENSP00000464772.2:p.Cys324Arg | |
| ENST00000593223.2:c.970T>C | ENSP00000466118.2:p.Cys324Arg | |
| ENST00000611848.2:c.970T>C | ENSP00000478613.2:p.Cys324Arg | |
| ENST00000684953.1:n.2342T>C | ||
| ENST00000685090.1:n.1421T>C | ||
| ENST00000685232.1:n.1078T>C | ||
| ENST00000688307.1:n.221T>C | ||
| ENST00000688574.1:n.1078T>C | ||
| ENST00000688903.1:n.1184T>C | ||
| ENST00000691124.1:n.2452T>C | ||
| ENST00000342988.8:c.970T>C MANE Select | ENSP00000341551.3:p.Cys324Arg | |
| ENST00000342988.7:c.970T>C | ENSP00000341551.3:p.Cys324Arg | |
| ENST00000398417.6:c.970T>C | ENSP00000381452.1:p.Cys324Arg | |
| ENST00000588745.5:c.682T>C | ENSP00000464901.1:p.Cys228Arg | |
| ENST00000591126.5:n.2971T>C | ||
| ENST00000592186.5:c.955+5521T>C | ENSP00000468611.1:n.955+5521T>C | |
| ENST00000611848.1:c.170T>C | ||
| NM_005359.5:c.970T>C , LRG_318t1:c.970T>C | NP_005350.1:p.Cys324Arg | |
| NM_005359.6:c.970T>C MANE Select | NP_005350.1:p.Cys324Arg |