Revel Score:
ENST00000316623 (MANE Select)
0.903
ENST00000389087
0.903
ENST00000544030
0.903
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48444611A>C , CM000677.2:g.48444611A>C | GRCh38 |
| NC_000015.9:g.48736808A>C , CM000677.1:g.48736808A>C | GRCh37 |
| NC_000015.8:g.46524100A>C | NCBI36 |
| NG_008805.2:g.206178T>G , LRG_778:g.206178T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5967T>G | ENSP00000453958.2:p.Cys1989Trp | |
| ENST00000674301.2:c.5967T>G | ENSP00000501333.2:p.Cys1989Trp | |
| ENST00000684448.1:n.4641T>G | ||
| ENST00000316623.10:c.5967T>G MANE Select | ENSP00000325527.5:p.Cys1989Trp | |
| ENST00000674301.1:c.966T>G | ENSP00000501333.1:p.Cys322Trp | |
| ENST00000316623.9:c.5967T>G | ENSP00000325527.5:p.Cys1989Trp | |
| ENST00000537463.6:c.*1730T>G | ENSP00000440294.2:n.*1730T>G | |
| ENST00000559133.5:c.1274T>G | ||
| ENST00000560820.1:n.87T>G | ||
| NM_000138.4:c.5967T>G , LRG_778t1:c.5967T>G | NP_000129.3:p.Cys1989Trp | |
| NM_000138.5:c.5967T>G MANE Select | NP_000129.3:p.Cys1989Trp |