Linked Data
ClinVar Variation Id:
752694
ClinVar RCV Id:
RCV000929855
dbSNP Id:
rs771461091
ExAC:
1:216371650 T / A
gnomAD v2:
1-216371650-T-A
gnomAD v4:
1-216198308-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216198308T>A , CM000663.2:g.216198308T>A | GRCh38 |
| NC_000001.10:g.216371650T>A , CM000663.1:g.216371650T>A | GRCh37 |
| NC_000001.9:g.214438273T>A | NCBI36 |
| NG_009497.1:g.230089A>T | |
| NG_009497.2:g.230141A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.4081+7A>T (USH2A) MANE Select | ENSP00000305941.3:n.4081+7A>T | |
| ENST00000674083.1:c.4081+7A>T (USH2A) | ENSP00000501296.1:n.4081+7A>T | |
| ENST00000307340.7:c.4081+7A>T (USH2A) | ENSP00000305941.3:n.4081+7A>T | |
| ENST00000366942.3:c.4081+7A>T (USH2A) | ENSP00000355909.3:n.4081+7A>T | |
| NM_007123.5:c.4081+7A>T (USH2A) | NP_009054.5:n.4081+7A>T | |
| NM_206933.2:c.4081+7A>T (USH2A) | NP_996816.2:n.4081+7A>T | |
| XR_922595.1:n.354+2383T>A (USH2A-AS1) | ||
| XR_922596.1:n.354+2383T>A (USH2A-AS1) | ||
| XR_922597.1:n.354+2383T>A (USH2A-AS1) | ||
| XR_922598.1:n.484+2383T>A (USH2A-AS1) | ||
| XR_922595.3:n.1076+2383T>A (USH2A-AS1) | ||
| XR_922596.3:n.1076+2383T>A (USH2A-AS1) | ||
| NM_206933.3:c.4081+7A>T (USH2A) | NP_996816.2:n.4081+7A>T | |
| NM_007123.6:c.4081+7A>T (USH2A) | NP_009054.6:n.4081+7A>T | |
| NM_206933.4:c.4081+7A>T (USH2A) MANE Select | NP_996816.3:n.4081+7A>T |