Revel Score:
ENST00000316623 (MANE Select)
0.285
ENST00000389087
0.285
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000442 (AFR)
Exomes Max Group AF
0.0000099 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48428373C>T , CM000677.2:g.48428373C>T | GRCh38 |
| NC_000015.9:g.48720570C>T , CM000677.1:g.48720570C>T | GRCh37 |
| NC_000015.8:g.46507862C>T | NCBI36 |
| NG_008805.2:g.222416G>A , LRG_778:g.222416G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6970G>A | ENSP00000453958.2:p.Ala2324Thr | |
| ENST00000674301.2:c.*421G>A | ENSP00000501333.2:n.*421G>A | |
| ENST00000682170.1:n.579G>A | ||
| ENST00000682767.1:n.205G>A | ||
| ENST00000316623.10:c.6970G>A MANE Select | ENSP00000325527.5:p.Ala2324Thr | |
| ENST00000674301.1:c.2074G>A | ENSP00000501333.1:n.2074G>A | |
| ENST00000316623.9:c.6970G>A | ENSP00000325527.5:p.Ala2324Thr | |
| ENST00000559133.5:c.2277G>A | ||
| ENST00000560720.1:n.257G>A | ||
| NM_000138.4:c.6970G>A , LRG_778t1:c.6970G>A | NP_000129.3:p.Ala2324Thr | |
| NM_000138.5:c.6970G>A MANE Select | NP_000129.3:p.Ala2324Thr |