Linked Data
ClinVar Variation Id:
476680
dbSNP Id:
rs141834493
ExAC:
11:32417906 T / C
gnomAD v2:
11-32417906-T-C
gnomAD v3:
11-32396360-T-C
gnomAD v4:
11-32396360-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32396360T>C , CM000673.2:g.32396360T>C | GRCh38 |
| NC_000011.9:g.32417906T>C , CM000673.1:g.32417906T>C | GRCh37 |
| NC_000011.8:g.32374482T>C | NCBI36 |
| NG_009272.1:g.44182A>G , LRG_525:g.44182A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1110A>G | ENSP00000331327.5:p.Ala370= | |
| ENST00000379077.9:c.*345A>G | ENSP00000368368.5:n.*345A>G | |
| ENST00000379079.8:c.510A>G | ENSP00000368370.2:p.Ala170= | |
| ENST00000448076.9:c.1161A>G | ENSP00000413452.5:p.Ala387= | |
| ENST00000452863.10:c.1161A>G MANE Select | ENSP00000415516.5:p.Ala387= | |
| ENST00000526685.2:n.615A>G | ||
| ENST00000639563.3:c.1110A>G | ENSP00000492269.3:p.Ala370= | |
| ENST00000639907.2:n.304A>G | ||
| ENST00000640146.2:c.486A>G | ENSP00000491984.2:p.Ala162= | |
| ENST00000650861.1:n.1742A>G | ||
| ENST00000651459.1:c.35+3588A>G | ||
| ENST00000651668.1:n.98A>G | ||
| ENST00000651794.1:n.904A>G | ||
| ENST00000651819.1:n.86A>G | ||
| ENST00000652579.1:n.321A>G | ||
| ENST00000652724.1:n.351A>G | ||
| ENST00000332351.7:c.1146A>G | ENSP00000331327.3:p.Ala382= | |
| ENST00000379077.7:c.*345A>G | ENSP00000368368.3:n.*345A>G | |
| ENST00000379079.6:c.510A>G | ENSP00000368370.2:p.Ala170= | |
| ENST00000448076.7:c.1146A>G | ENSP00000413452.3:p.Ala382= | |
| ENST00000452863.7:c.1095A>G | ENSP00000415516.3:p.Ala365= | |
| ENST00000526685.1:c.-28A>G | ENSP00000436292.1:n.-28A>G | |
| ENST00000527882.5:c.217A>G | ||
| ENST00000530998.5:c.459A>G | ENSP00000435307.1:p.Ala153= | |
| NM_000378.4:c.1095A>G | NP_000369.3:p.Ala365= | |
| NM_001198551.1:c.510A>G , LRG_525t2:c.510A>G | NP_001185480.1:p.Ala170= | |
| NM_001198552.1:c.459A>G | NP_001185481.1:p.Ala153= | |
| NM_024424.3:c.1146A>G | NP_077742.2:p.Ala382= | |
| NM_024426.4:c.1146A>G | NP_077744.3:p.Ala382= | |
| NM_000378.5:c.1110A>G | NP_000369.4:p.Ala370= | |
| NM_024424.4:c.1161A>G | NP_077742.3:p.Ala387= | |
| NM_024426.5:c.1161A>G | NP_077744.4:p.Ala387= | |
| NM_001367854.1:c.-28A>G | NP_001354783.1:n.-28A>G | |
| NR_160306.1:n.1493A>G | ||
| NM_000378.6:c.1110A>G | NP_000369.4:p.Ala370= | |
| NM_001198552.2:c.459A>G | NP_001185481.1:p.Ala153= | |
| NM_024424.5:c.1161A>G | NP_077742.3:p.Ala387= | |
| NM_024426.6:c.1161A>G MANE Select | NP_077744.4:p.Ala387= |