Linked Data
ClinVar Variation Id:
1634660
ClinVar RCV Id:
RCV002142921
dbSNP Id:
rs751811684
ExAC:
11:74204266 T / C
gnomAD v2:
11-74204266-T-C
gnomAD v3:
11-74493221-T-C
gnomAD v4:
11-74493221-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74493221T>C , CM000673.2:g.74493221T>C | GRCh38 |
| NC_000011.9:g.74204266T>C , CM000673.1:g.74204266T>C | GRCh37 |
| NC_000011.8:g.73881914T>C | NCBI36 |
| NG_051333.1:g.5493A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310109.5:c.466+17A>G MANE Select | ENSP00000309463.4:n.466+17A>G | |
| ENST00000310109.4:c.466+17A>G | ENSP00000309463.4:n.466+17A>G | |
| ENST00000527115.1:c.95A>G | ||
| ENST00000528085.1:c.181+246A>G | ||
| NM_001144869.1:c.466+17A>G | NP_001138341.1:n.466+17A>G | |
| XM_011545021.1:c.483A>G | XP_011543323.1:p.Ala161= | |
| NM_001144869.2:c.466+17A>G | NP_001138341.1:n.466+17A>G | |
| NM_001329941.1:c.483A>G | NP_001316870.1:p.Ala161= | |
| NM_001329942.1:c.237+246A>G | NP_001316871.1:n.237+246A>G | |
| NM_001144869.3:c.466+17A>G MANE Select | NP_001138341.1:n.466+17A>G | |
| NM_001329941.2:c.483A>G | NP_001316870.1:p.Ala161= | |
| NM_001329942.2:c.237+246A>G | NP_001316871.1:n.237+246A>G |