Revel Score:
ENST00000329841 (MANE Select)
0.799
ENST00000415812
0.799
ENST00000346623
0.799
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100887632C>T , CM000677.2:g.100887632C>T | GRCh38 |
| NC_000015.9:g.101427837C>T , CM000677.1:g.101427837C>T | GRCh37 |
| NC_000015.8:g.99245360C>T | NCBI36 |
| NG_012254.1:g.12829C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329841.10:c.265C>T MANE Select | ENSP00000332256.5:p.Arg89Cys | |
| ENST00000329841.9:c.265C>T | ENSP00000332256.5:p.Arg89Cys | |
| ENST00000346623.6:c.265C>T | ENSP00000343294.6:p.Arg89Cys | |
| ENST00000558033.5:c.265C>T | ENSP00000454107.1:p.Arg89Cys | |
| ENST00000560555.1:n.325C>T | ||
| ENST00000561338.5:c.181C>T | ENSP00000452789.1:p.Arg61Cys | |
| NM_000693.3:c.265C>T | NP_000684.2:p.Arg89Cys | |
| NM_001293815.1:c.265C>T | NP_001280744.1:p.Arg89Cys | |
| NM_000693.4:c.265C>T MANE Select | NP_000684.2:p.Arg89Cys | |
| NM_001293815.2:c.265C>T | NP_001280744.1:p.Arg89Cys |