Linked Data
ClinVar Variation Id:
295435
dbSNP Id:
rs767648070
ExAC:
1:216380754 C / T
gnomAD v2:
1-216380754-C-T
gnomAD v3:
1-216207412-C-T
gnomAD v4:
1-216207412-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216207412C>T , CM000663.2:g.216207412C>T | GRCh38 |
| NC_000001.10:g.216380754C>T , CM000663.1:g.216380754C>T | GRCh37 |
| NC_000001.9:g.214447377C>T | NCBI36 |
| NG_009497.1:g.220985G>A | |
| NG_009497.2:g.221037G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.3177G>A (USH2A) MANE Select | ENSP00000305941.3:p.Pro1059= | |
| ENST00000674083.1:c.3177G>A (USH2A) | ENSP00000501296.1:p.Pro1059= | |
| ENST00000307340.7:c.3177G>A (USH2A) | ENSP00000305941.3:p.Pro1059= | |
| ENST00000366942.3:c.3177G>A (USH2A) | ENSP00000355909.3:p.Pro1059= | |
| NM_007123.5:c.3177G>A (USH2A) | NP_009054.5:p.Pro1059= | |
| NM_206933.2:c.3177G>A (USH2A) | NP_996816.2:p.Pro1059= | |
| XR_922596.1:n.354+11487C>T (USH2A-AS1) | ||
| XR_922597.1:n.354+11487C>T (USH2A-AS1) | ||
| XR_922596.3:n.1076+11487C>T (USH2A-AS1) | ||
| NM_206933.3:c.3177G>A (USH2A) | NP_996816.2:p.Pro1059= | |
| NM_007123.6:c.3177G>A (USH2A) | NP_009054.6:p.Pro1059= | |
| NM_206933.4:c.3177G>A (USH2A) MANE Select | NP_996816.3:p.Pro1059= |