ClinGen Evidence Repository:
Classification
Pathogenic
Condition
nonsyndromic genetic deafness
VCEP
Hearing Loss VCEP
Revel Score:
ENST00000347132 (MANE Select)
0.966
ENST00000509682
0.966
ENST00000443478
0.793
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40819893G>A , CM000663.2:g.40819893G>A | GRCh38 |
| NC_000001.10:g.41285565G>A , CM000663.1:g.41285565G>A | GRCh37 |
| NC_000001.9:g.41058152G>A | NCBI36 |
| NG_008139.1:g.40882G>A | |
| NG_008139.2:g.40882G>A | |
| NG_008139.3:g.41107G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.853G>A MANE Select | ENSP00000262916.6:p.Gly285Ser | |
| ENST00000347132.9:c.853G>A | ENSP00000262916.6:p.Gly285Ser | |
| ENST00000443478.3:c.539G>A | ||
| ENST00000506017.1:n.172G>A | ||
| ENST00000509682.6:c.853G>A | ENSP00000423756.2:p.Gly285Ser | |
| NM_004700.3:c.853G>A | NP_004691.2:p.Gly285Ser | |
| NM_172163.2:c.853G>A | NP_751895.1:p.Gly285Ser | |
| XM_011542417.1:c.853G>A | XP_011540719.1:p.Gly285Ser | |
| XM_011542418.1:c.853G>A | XP_011540720.1:p.Gly285Ser | |
| XM_011542419.1:c.853G>A | XP_011540721.1:p.Gly285Ser | |
| XM_011542420.1:c.853G>A | XP_011540722.1:p.Gly285Ser | |
| XR_946798.1:n.859G>A | ||
| XR_946799.1:n.859G>A | ||
| XR_946800.1:n.859G>A | ||
| XM_017002792.1:c.-165G>A | XP_016858281.1:n.-165G>A | |
| NM_004700.4:c.853G>A MANE Select | NP_004691.2:p.Gly285Ser | |
| NM_172163.3:c.853G>A | NP_751895.1:p.Gly285Ser |