Linked Data
ClinVar Variation Id:
166512
dbSNP Id:
rs727503735
ExAC:
1:216390747 G / C
gnomAD v2:
1-216390747-G-C
gnomAD v3:
1-216217405-G-C
gnomAD v4:
1-216217405-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216217405G>C , CM000663.2:g.216217405G>C | GRCh38 |
| NC_000001.10:g.216390747G>C , CM000663.1:g.216390747G>C | GRCh37 |
| NC_000001.9:g.214457370G>C | NCBI36 |
| NG_009497.1:g.210992C>G | |
| NG_009497.2:g.211044C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.3139C>G (USH2A) MANE Select | ENSP00000305941.3:p.Leu1047Val | |
| ENST00000674083.1:c.3139C>G (USH2A) | ENSP00000501296.1:p.Leu1047Val | |
| ENST00000307340.7:c.3139C>G (USH2A) | ENSP00000305941.3:p.Leu1047Val | |
| ENST00000366942.3:c.3139C>G (USH2A) | ENSP00000355909.3:p.Leu1047Val | |
| NM_007123.5:c.3139C>G (USH2A) | NP_009054.5:p.Leu1047Val | |
| NM_206933.2:c.3139C>G (USH2A) | NP_996816.2:p.Leu1047Val | |
| XR_922596.1:n.355-7982G>C (USH2A-AS1) | ||
| XR_922597.1:n.355-20430G>C (USH2A-AS1) | ||
| XR_922596.3:n.1077-7982G>C (USH2A-AS1) | ||
| NM_206933.3:c.3139C>G (USH2A) | NP_996816.2:p.Leu1047Val | |
| NM_007123.6:c.3139C>G (USH2A) | NP_009054.6:p.Leu1047Val | |
| NM_206933.4:c.3139C>G (USH2A) MANE Select | NP_996816.3:p.Leu1047Val |