Revel Score:
ENST00000297784 (MANE Select)
0.646
ENST00000340019
0.646
ENST00000396235
0.646
ENST00000537917
0.646
ENST00000538054
0.646
ENST00000542143
0.646
ENST00000396237
0.646
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72789302G>C , CM000671.2:g.72789302G>C | GRCh38 |
| NC_000009.11:g.75404218G>C , CM000671.1:g.75404218G>C | GRCh37 |
| NC_000009.10:g.74594038G>C | NCBI36 |
| NG_008213.1:g.272502G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.1209G>C MANE Select | ENSP00000297784.6:p.Trp403Cys | |
| ENST00000644967.1:c.771G>C | ENSP00000496159.1:p.Trp257Cys | |
| ENST00000645053.1:c.771G>C | ENSP00000493838.1:p.Trp257Cys | |
| ENST00000645208.2:c.1209G>C | ENSP00000494684.1:p.Trp403Cys | |
| ENST00000645773.1:c.1083G>C | ENSP00000493698.1:p.Trp361Cys | |
| ENST00000645787.1:n.1249G>C | ||
| ENST00000646619.1:c.771G>C | ENSP00000493726.1:p.Trp257Cys | |
| ENST00000650689.1:n.1507G>C | ||
| ENST00000651183.1:c.771G>C | ENSP00000498723.1:p.Trp257Cys | |
| ENST00000297784.9:c.1209G>C | ENSP00000297784.5:p.Trp403Cys | |
| ENST00000340019.4:c.1209G>C | ENSP00000341433.3:p.Trp403Cys | |
| NM_138691.2:c.1209G>C | NP_619636.2:p.Trp403Cys | |
| XM_011518213.1:c.1797G>C | XP_011516515.1:p.Trp599Cys | |
| XM_017014256.1:c.1212G>C | XP_016869745.1:p.Trp404Cys | |
| NM_138691.3:c.1209G>C MANE Select | NP_619636.2:p.Trp403Cys |