Revel Score:
ENST00000319642
0.162
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000698 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00000539 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74923028G>C , CM000679.2:g.74923028G>C | GRCh38 |
| NC_000017.10:g.72919123G>C , CM000679.1:g.72919123G>C | GRCh37 |
| NC_000017.9:g.70430718G>C | NCBI36 |
| NG_007882.1:g.5229C>G | |
| NG_033062.1:g.3754G>C | |
| NG_007882.2:g.5236C>G | |
| NG_033062.2:g.3754G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580223.2:c.-237G>C (OTOP2) | ENSP00000463837.2:n.-237G>C | |
| ENST00000614341.5:c.46C>G (USH1G) MANE Select | ENSP00000480279.1:p.Leu16Val | |
| ENST00000579243.1:c.46C>G (USH1G) | ENSP00000462568.1:p.Leu16Val | |
| ENST00000614341.4:c.46C>G (USH1G) | ENSP00000480279.1:p.Leu16Val | |
| NM_001282489.2:c.-211C>G (USH1G) | NP_001269418.1:n.-211C>G | |
| NM_173477.4:c.46C>G (USH1G) | NP_775748.2:p.Leu16Val | |
| XM_011525479.1:c.-237G>C (OTOP2) | XP_011523781.1:n.-237G>C | |
| XM_011525479.2:c.-237G>C (OTOP2) | XP_011523781.1:n.-237G>C | |
| NM_173477.5:c.46C>G (USH1G) MANE Select | NP_775748.2:p.Leu16Val | |
| NM_001282489.3:c.-211C>G (USH1G) | NP_001269418.1:n.-211C>G |