ClinGen Classification:
Classification
Uncertain Significance
Condition
nonsyndromic genetic deafness
VCEP
Hearing Loss VCEP
ClinVar Variation:
dbSNP:
gnomAD v4:
Revel Score:
ENST00000398860
0.534
ENST00000398855
0.534
ENST00000224721 (MANE Select)
0.534
ENST00000398788
0.534
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71798390A>G , CM000672.2:g.71798390A>G | GRCh38 |
| NC_000010.10:g.73558147A>G , CM000672.1:g.73558147A>G | GRCh37 |
| NC_000010.9:g.73228153A>G | NCBI36 |
| NG_008835.1:g.406444A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.6866A>G MANE Select | ENSP00000224721.9:p.Asn2289Ser | |
| ENST00000642965.1:c.799A>G | ENSP00000495222.1:n.799A>G | |
| ENST00000647092.1:c.463A>G | ENSP00000495176.1:n.463A>G | |
| ENST00000224721.10:c.6881A>G | ENSP00000224721.8:p.Asn2294Ser | |
| ENST00000398788.4:c.146A>G | ENSP00000381768.3:p.Asn49Ser | |
| ENST00000475158.1:n.402A>G | ||
| ENST00000619887.4:c.146A>G | ENSP00000478374.1:p.Asn49Ser | |
| ENST00000622827.4:c.6866A>G | ENSP00000483211.1:p.Asn2289Ser | |
| NM_001171933.1:c.146A>G | NP_001165404.1:p.Asn49Ser | |
| NM_001171934.1:c.146A>G | NP_001165405.1:p.Asn49Ser | |
| NM_022124.5:c.6866A>G | NP_071407.4:p.Asn2289Ser | |
| XM_006717940.2:c.7061A>G | XP_006718003.1:p.Asn2354Ser | |
| XM_006717942.2:c.6995A>G | XP_006718005.1:p.Asn2332Ser | |
| XM_011540039.1:c.7058A>G | XP_011538341.1:p.Asn2353Ser | |
| XM_011540040.1:c.7055A>G | XP_011538342.1:p.Asn2352Ser | |
| XM_011540041.1:c.7001A>G | XP_011538343.1:p.Asn2334Ser | |
| XM_011540042.1:c.6971A>G | XP_011538344.1:p.Asn2324Ser | |
| XM_011540043.1:c.7061A>G | XP_011538345.1:p.Asn2354Ser | |
| XM_011540044.1:c.6926A>G | XP_011538346.1:p.Asn2309Ser | |
| XM_011540045.1:c.7061A>G | XP_011538347.1:p.Asn2354Ser | |
| XM_011540046.1:c.6521A>G | XP_011538348.1:p.Asn2174Ser | |
| XM_011540047.1:c.5879A>G | XP_011538349.1:p.Asn1960Ser | |
| XM_011540052.1:c.3389A>G | XP_011538354.1:p.Asn1130Ser | |
| NM_022124.6:c.6866A>G MANE Select | NP_071407.4:p.Asn2289Ser |