Revel Score:
ENST00000435422
0.865
ENST00000337851 (MANE Select)
0.865
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00515768 (EAS)
Genomes Max Group AF
0.00384129 (EAS)
Exomes Max Group AF
0.00516267 (EAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.156759365A>G , CM000667.2:g.156759365A>G | GRCh38 |
| NC_000005.9:g.156186376A>G , CM000667.1:g.156186376A>G | GRCh37 |
| NC_000005.8:g.156118954A>G | NCBI36 |
| NG_008693.2:g.894023A>G , LRG_205:g.894023A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337851.9:c.848A>G MANE Select | ENSP00000338343.4:p.Gln283Arg | |
| ENST00000337851.8:c.848A>G | ENSP00000338343.4:p.Gln283Arg | |
| ENST00000435422.7:c.845A>G | ENSP00000403003.2:p.Gln282Arg | |
| NM_000337.5:c.848A>G , LRG_205t1:c.848A>G | NP_000328.2:p.Gln283Arg | |
| NM_001128209.1:c.845A>G | NP_001121681.1:p.Gln282Arg | |
| XM_005265966.3:c.848A>G | XP_005266023.1:p.Gln283Arg | |
| XM_006714911.2:c.848A>G | XP_006714974.1:p.Gln283Arg | |
| XM_011534621.1:c.845A>G | XP_011532923.1:p.Gln282Arg | |
| XM_005265966.5:c.848A>G | XP_005266023.1:p.Gln283Arg | |
| XM_011534621.2:c.845A>G | XP_011532923.1:p.Gln282Arg | |
| XM_017009723.2:c.848A>G | XP_016865212.1:p.Gln283Arg | |
| XM_017009724.1:c.848A>G | XP_016865213.1:p.Gln283Arg | |
| NM_001128209.2:c.845A>G | NP_001121681.1:p.Gln282Arg | |
| NM_000337.6:c.848A>G MANE Select | NP_000328.2:p.Gln283Arg |