Linked Data
ClinVar Variation Id:
1800581
ClinVar RCV Id:
RCV002461720
dbSNP Id:
rs1386887790
gnomAD v2:
1-216380759-G-T
gnomAD v3:
1-216207417-G-T
gnomAD v4:
1-216207417-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216207417G>T , CM000663.2:g.216207417G>T | GRCh38 |
| NC_000001.10:g.216380759G>T , CM000663.1:g.216380759G>T | GRCh37 |
| NC_000001.9:g.214447382G>T | NCBI36 |
| NG_009497.1:g.220980C>A | |
| NG_009497.2:g.221032C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.3172C>A (USH2A) MANE Select | ENSP00000305941.3:p.Pro1058Thr | |
| ENST00000674083.1:c.3172C>A (USH2A) | ENSP00000501296.1:p.Pro1058Thr | |
| ENST00000307340.7:c.3172C>A (USH2A) | ENSP00000305941.3:p.Pro1058Thr | |
| ENST00000366942.3:c.3172C>A (USH2A) | ENSP00000355909.3:p.Pro1058Thr | |
| NM_007123.5:c.3172C>A (USH2A) | NP_009054.5:p.Pro1058Thr | |
| NM_206933.2:c.3172C>A (USH2A) | NP_996816.2:p.Pro1058Thr | |
| XR_922596.1:n.354+11492G>T (USH2A-AS1) | ||
| XR_922597.1:n.354+11492G>T (USH2A-AS1) | ||
| XR_922596.3:n.1076+11492G>T (USH2A-AS1) | ||
| NM_206933.3:c.3172C>A (USH2A) | NP_996816.2:p.Pro1058Thr | |
| NM_007123.6:c.3172C>A (USH2A) | NP_009054.6:p.Pro1058Thr | |
| NM_206933.4:c.3172C>A (USH2A) MANE Select | NP_996816.3:p.Pro1058Thr |