Linked Data
ClinVar Variation Id:
1369459
ClinVar RCV Id:
RCV001894906
dbSNP Id:
rs770323958
ExAC:
1:216371737 T / C
gnomAD v2:
1-216371737-T-C
gnomAD v3:
1-216198395-T-C
gnomAD v4:
1-216198395-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216198395T>C , CM000663.2:g.216198395T>C | GRCh38 |
| NC_000001.10:g.216371737T>C , CM000663.1:g.216371737T>C | GRCh37 |
| NC_000001.9:g.214438360T>C | NCBI36 |
| NG_009497.1:g.230002A>G | |
| NG_009497.2:g.230054A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.4001A>G (USH2A) MANE Select | ENSP00000305941.3:p.Lys1334Arg | |
| ENST00000674083.1:c.4001A>G (USH2A) | ENSP00000501296.1:p.Lys1334Arg | |
| ENST00000307340.7:c.4001A>G (USH2A) | ENSP00000305941.3:p.Lys1334Arg | |
| ENST00000366942.3:c.4001A>G (USH2A) | ENSP00000355909.3:p.Lys1334Arg | |
| NM_007123.5:c.4001A>G (USH2A) | NP_009054.5:p.Lys1334Arg | |
| NM_206933.2:c.4001A>G (USH2A) | NP_996816.2:p.Lys1334Arg | |
| XR_922595.1:n.354+2470T>C (USH2A-AS1) | ||
| XR_922596.1:n.354+2470T>C (USH2A-AS1) | ||
| XR_922597.1:n.354+2470T>C (USH2A-AS1) | ||
| XR_922598.1:n.484+2470T>C (USH2A-AS1) | ||
| XR_922595.3:n.1076+2470T>C (USH2A-AS1) | ||
| XR_922596.3:n.1076+2470T>C (USH2A-AS1) | ||
| NM_206933.3:c.4001A>G (USH2A) | NP_996816.2:p.Lys1334Arg | |
| NM_007123.6:c.4001A>G (USH2A) | NP_009054.6:p.Lys1334Arg | |
| NM_206933.4:c.4001A>G (USH2A) MANE Select | NP_996816.3:p.Lys1334Arg |