Revel Score:
ENST00000332990
0.443
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.44624754T>C , CM000666.2:g.44624754T>C | GRCh38 |
| NC_000004.11:g.44626771T>C , CM000666.1:g.44626771T>C | GRCh37 |
| NC_000004.10:g.44321528T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415895.9:c.455A>G MANE Select | ENSP00000412696.4:p.Tyr152Cys | |
| ENST00000682193.1:c.363A>G | ||
| ENST00000684735.1:c.147-2178A>G | ||
| ENST00000332990.5:c.527A>G | ENSP00000332772.5:p.Tyr176Cys | |
| ENST00000415895.8:c.455A>G | ENSP00000412696.4:p.Tyr152Cys | |
| NM_182592.2:c.527A>G | NP_872398.2:p.Tyr176Cys | |
| XM_011513679.1:c.641A>G | XP_011511981.1:p.Tyr214Cys | |
| XM_011513679.2:c.641A>G | XP_011511981.1:p.Tyr214Cys | |
| NM_182592.3:c.455A>G MANE Select | NP_872398.3:p.Tyr152Cys |