Revel Score:
ENST00000316623 (MANE Select)
0.958
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48427660A>G , CM000677.2:g.48427660A>G | GRCh38 |
| NC_000015.9:g.48719857A>G , CM000677.1:g.48719857A>G | GRCh37 |
| NC_000015.8:g.46507149A>G | NCBI36 |
| NG_008805.2:g.223129T>C , LRG_778:g.223129T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.7173T>C | ENSP00000453958.2:p.Ala2391= | |
| ENST00000674301.2:c.*624T>C | ENSP00000501333.2:n.*624T>C | |
| ENST00000682170.1:n.1292T>C | ||
| ENST00000682767.1:n.408T>C | ||
| ENST00000316623.10:c.7111T>C MANE Select | ENSP00000325527.5:p.Trp2371Arg | |
| ENST00000674301.1:c.2277T>C | ENSP00000501333.1:n.2277T>C | |
| ENST00000316623.9:c.7111T>C | ENSP00000325527.5:p.Trp2371Arg | |
| ENST00000559133.5:c.2480T>C | ||
| NM_000138.4:c.7111T>C , LRG_778t1:c.7111T>C | NP_000129.3:p.Trp2371Arg | |
| NM_000138.5:c.7111T>C MANE Select | NP_000129.3:p.Trp2371Arg |