Linked Data
ClinVar Variation Id:
1141125
ClinVar RCV Id:
RCV001478434
dbSNP Id:
rs750683542
ExAC:
10:94397212 A / G
gnomAD v2:
10-94397212-A-G
gnomAD v3:
10-92637455-A-G
gnomAD v4:
10-92637455-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92637455A>G , CM000672.2:g.92637455A>G | GRCh38 |
| NC_000010.10:g.94397212A>G , CM000672.1:g.94397212A>G | GRCh37 |
| NC_000010.9:g.94387192A>G | NCBI36 |
| NG_032580.1:g.49388A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.2070A>G MANE Select | ENSP00000260731.3:p.Gln690= | |
| ENST00000676621.1:c.*588A>G | ENSP00000503639.1:n.*588A>G | |
| ENST00000676647.1:c.1863A>G | ENSP00000503394.1:p.Gln621= | |
| ENST00000676757.1:c.1863A>G | ENSP00000504289.1:p.Gln621= | |
| ENST00000677720.1:c.*44A>G | ENSP00000504840.1:n.*44A>G | |
| ENST00000260731.4:c.2070A>G | ENSP00000260731.3:p.Gln690= | |
| NM_004523.3:c.2070A>G | NP_004514.2:p.Gln690= | |
| NM_004523.4:c.2070A>G MANE Select | NP_004514.2:p.Gln690= |