Revel Score:
ENST00000274576 (MANE Select)
0.971
ENST00000455880
0.971
ENST00000545569
0.971
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151859973C>G , CM000667.2:g.151859973C>G | GRCh38 |
| NC_000005.9:g.151239534C>G , CM000667.1:g.151239534C>G | GRCh37 |
| NC_000005.8:g.151219727C>G | NCBI36 |
| NG_011764.1:g.69864G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.288G>C MANE Select | ENSP00000274576.5:p.Trp96Cys | |
| ENST00000274576.8:c.288G>C | ENSP00000274576.4:p.Trp96Cys | |
| ENST00000455880.2:c.288G>C | ENSP00000411593.2:p.Trp96Cys | |
| ENST00000462581.6:c.*46G>C | ENSP00000430595.1:n.*46G>C | |
| ENST00000471351.2:n.571G>C | ||
| NM_000171.3:c.288G>C | NP_000162.2:p.Trp96Cys | |
| NM_001146040.1:c.288G>C | NP_001139512.1:p.Trp96Cys | |
| NM_001292000.1:c.39G>C | NP_001278929.1:p.Trp13Cys | |
| XM_005268412.2:c.288G>C | XP_005268469.1:p.Trp96Cys | |
| XR_002956230.1:n.229+2080C>G | ||
| NM_000171.4:c.288G>C MANE Select | NP_000162.2:p.Trp96Cys | |
| NM_001146040.2:c.288G>C | NP_001139512.1:p.Trp96Cys | |
| NM_001292000.2:c.39G>C | NP_001278929.1:p.Trp13Cys |