Revel Score:
ENST00000375499 (MANE Select)
0.874
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00026521 (SAS)
Genomes Max Group AF
0.00006828 (EAS)
Exomes Max Group AF
0.00027998 (SAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17027849T>C , CM000663.2:g.17027849T>C | GRCh38 |
| NC_000001.10:g.17354344T>C , CM000663.1:g.17354344T>C | GRCh37 |
| NC_000001.9:g.17226931T>C | NCBI36 |
| NG_012340.1:g.31322A>G , LRG_316:g.31322A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.269A>G | ENSP00000481376.2:p.Tyr90Cys | |
| ENST00000491274.6:c.398A>G | ENSP00000480482.2:p.Tyr133Cys | |
| ENST00000375499.8:c.440A>G MANE Select | ENSP00000364649.3:p.Tyr147Cys | |
| ENST00000375499.7:c.440A>G | ENSP00000364649.3:p.Tyr147Cys | |
| ENST00000463045.2:c.269A>G | ENSP00000481376.1:p.Tyr90Cys | |
| ENST00000475506.1:n.357A>G | ||
| ENST00000485515.5:n.374A>G | ||
| ENST00000491274.5:c.398A>G | ENSP00000480482.1:p.Tyr133Cys | |
| NM_003000.2:c.440A>G , LRG_316t1:c.440A>G | NP_002991.2:p.Tyr147Cys | |
| NM_003000.3:c.440A>G MANE Select | NP_002991.2:p.Tyr147Cys |