Revel Score:
ENST00000316623 (MANE Select)
0.642
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48420752A>G , CM000677.2:g.48420752A>G | GRCh38 |
| NC_000015.9:g.48712949A>G , CM000677.1:g.48712949A>G | GRCh37 |
| NC_000015.8:g.46500241A>G | NCBI36 |
| NG_008805.2:g.230037T>C , LRG_778:g.230037T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*562T>C | ENSP00000453958.2:n.*562T>C | |
| ENST00000674301.2:c.*1267T>C | ENSP00000501333.2:n.*1267T>C | |
| ENST00000682170.1:n.1935T>C | ||
| ENST00000682767.1:n.1051T>C | ||
| ENST00000316623.10:c.7754T>C MANE Select | ENSP00000325527.5:p.Ile2585Thr | |
| ENST00000674301.1:c.2920T>C | ENSP00000501333.1:n.2920T>C | |
| ENST00000316623.9:c.7754T>C | ENSP00000325527.5:p.Ile2585Thr | |
| ENST00000559133.5:c.3123T>C | ||
| NM_000138.4:c.7754T>C , LRG_778t1:c.7754T>C | NP_000129.3:p.Ile2585Thr | |
| NM_000138.5:c.7754T>C MANE Select | NP_000129.3:p.Ile2585Thr |