Revel Score:
ENST00000319642
0.353
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00124397 (NFE)
Genomes Max Group AF
0.00104816 (NFE)
Exomes Max Group AF
0.00124465 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74922991G>A , CM000679.2:g.74922991G>A | GRCh38 |
| NC_000017.10:g.72919086G>A , CM000679.1:g.72919086G>A | GRCh37 |
| NC_000017.9:g.70430681G>A | NCBI36 |
| NG_007882.1:g.5266C>T | |
| NG_033062.1:g.3717G>A | |
| NG_007882.2:g.5273C>T | |
| NG_033062.2:g.3717G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580223.2:c.-274G>A (OTOP2) | ENSP00000463837.2:n.-274G>A | |
| ENST00000614341.5:c.83C>T (USH1G) MANE Select | ENSP00000480279.1:p.Pro28Leu | |
| ENST00000579243.1:c.83C>T (USH1G) | ENSP00000462568.1:p.Pro28Leu | |
| ENST00000614341.4:c.83C>T (USH1G) | ENSP00000480279.1:p.Pro28Leu | |
| NM_001282489.2:c.-174C>T (USH1G) | NP_001269418.1:n.-174C>T | |
| NM_173477.4:c.83C>T (USH1G) | NP_775748.2:p.Pro28Leu | |
| XM_011525479.1:c.-274G>A (OTOP2) | XP_011523781.1:n.-274G>A | |
| XM_011525479.2:c.-274G>A (OTOP2) | XP_011523781.1:n.-274G>A | |
| NM_173477.5:c.83C>T (USH1G) MANE Select | NP_775748.2:p.Pro28Leu | |
| NM_001282489.3:c.-174C>T (USH1G) | NP_001269418.1:n.-174C>T |