Linked Data
ClinVar Variation Id:
2042985
ClinVar RCV Id:
RCV002908347
dbSNP Id:
rs765160571
ExAC:
10:94397211 A / G
gnomAD v2:
10-94397211-A-G
gnomAD v3:
10-92637454-A-G
gnomAD v4:
10-92637454-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92637454A>G , CM000672.2:g.92637454A>G | GRCh38 |
| NC_000010.10:g.94397211A>G , CM000672.1:g.94397211A>G | GRCh37 |
| NC_000010.9:g.94387191A>G | NCBI36 |
| NG_032580.1:g.49387A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.2069A>G MANE Select | ENSP00000260731.3:p.Gln690Arg | |
| ENST00000676621.1:c.*587A>G | ENSP00000503639.1:n.*587A>G | |
| ENST00000676647.1:c.1862A>G | ENSP00000503394.1:p.Gln621Arg | |
| ENST00000676757.1:c.1862A>G | ENSP00000504289.1:p.Gln621Arg | |
| ENST00000677720.1:c.*43A>G | ENSP00000504840.1:n.*43A>G | |
| ENST00000260731.4:c.2069A>G | ENSP00000260731.3:p.Gln690Arg | |
| NM_004523.3:c.2069A>G | NP_004514.2:p.Gln690Arg | |
| NM_004523.4:c.2069A>G MANE Select | NP_004514.2:p.Gln690Arg |