Revel Score:
ENST00000357039 (MANE Select)
0.140
ENST00000419564
0.140
ENST00000520103
0.140
ENST00000522527
0.140
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00153906 (AFR)
Genomes Max Group AF
0.00169354 (AFR)
Exomes Max Group AF
0.00113707 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.76983457C>A , CM000670.2:g.76983457C>A | GRCh38 |
| NC_000008.10:g.77895693C>A , CM000670.1:g.77895693C>A | GRCh37 |
| NC_000008.9:g.78058248C>A | NCBI36 |
| NG_008371.1:g.21832G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357039.9:c.722G>T MANE Select | ENSP00000349543.4:p.Gly241Val | |
| ENST00000357039.8:c.722G>T | ENSP00000349543.4:p.Gly241Val | |
| ENST00000520103.5:c.722G>T | ENSP00000428590.1:p.Gly241Val | |
| ENST00000522527.5:c.722G>T | ENSP00000428638.1:p.Gly241Val | |
| NM_000318.2:c.722G>T | NP_000309.1:p.Gly241Val | |
| NM_001079867.1:c.722G>T | NP_001073336.1:p.Gly241Val | |
| NM_001172086.1:c.722G>T | NP_001165557.1:p.Gly241Val | |
| NM_001172087.1:c.722G>T | NP_001165558.1:p.Gly241Val | |
| NM_000318.3:c.722G>T MANE Select | NP_000309.2:p.Gly241Val | |
| NM_001079867.2:c.722G>T | NP_001073336.2:p.Gly241Val | |
| NM_001172086.2:c.722G>T | NP_001165557.2:p.Gly241Val | |
| NM_001172087.2:c.722G>T | NP_001165558.2:p.Gly241Val |