Linked Data
ClinVar Variation Id:
309000
dbSNP Id:
rs199593058
ExAC:
12:49420055 T / C
gnomAD v2:
12-49420055-T-C
gnomAD v3:
12-49026272-T-C
gnomAD v4:
12-49026272-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49026272T>C , CM000674.2:g.49026272T>C | GRCh38 |
| NC_000012.11:g.49420055T>C , CM000674.1:g.49420055T>C | GRCh37 |
| NC_000012.10:g.47706322T>C | NCBI36 |
| NG_027827.1:g.34053A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.15694A>G | ENSP00000506726.1:p.Ile5232Val | |
| ENST00000683863.1:n.174A>G | ||
| ENST00000684428.1:c.229A>G | ENSP00000507433.1:p.Ile77Val | |
| ENST00000684755.1:n.229A>G | ||
| ENST00000685024.1:c.819A>G | ||
| ENST00000685166.1:c.15703A>G | ENSP00000509386.1:p.Ile5235Val | |
| ENST00000688411.1:c.262-1326A>G | ENSP00000510146.1:n.262-1326A>G | |
| ENST00000691463.1:c.1080A>G | ENSP00000510624.1:n.1080A>G | |
| ENST00000692637.1:c.15691A>G | ENSP00000509666.1:p.Ile5231Val | |
| ENST00000301067.12:c.15694A>G MANE Select | ENSP00000301067.7:p.Ile5232Val | |
| ENST00000301067.11:c.15694A>G | ENSP00000301067.7:p.Ile5232Val | |
| NM_003482.3:c.15694A>G | NP_003473.3:p.Ile5232Val | |
| XM_005269162.3:c.15694A>G | XP_005269219.1:p.Ile5232Val | |
| XM_006719614.2:c.15703A>G | XP_006719677.1:p.Ile5235Val | |
| XM_006719616.2:c.15691A>G | XP_006719679.1:p.Ile5231Val | |
| XM_011538770.1:c.15703A>G | XP_011537072.1:p.Ile5235Val | |
| XM_011538771.1:c.15700A>G | XP_011537073.1:p.Ile5234Val | |
| XM_011538772.1:c.15694A>G | XP_011537074.1:p.Ile5232Val | |
| XM_011538773.1:c.15691A>G | XP_011537075.1:p.Ile5231Val | |
| XM_011538774.1:c.15682A>G | XP_011537076.1:p.Ile5228Val | |
| XM_011538775.1:c.15637A>G | XP_011537077.1:p.Ile5213Val | |
| XM_011538776.1:c.15610A>G | XP_011537078.1:p.Ile5204Val | |
| XR_944740.1:n.16973-1326A>G | ||
| XM_005269162.4:c.15694A>G | XP_005269219.1:p.Ile5232Val | |
| XM_006719614.4:c.15703A>G | XP_006719677.1:p.Ile5235Val | |
| XM_006719616.3:c.15691A>G | XP_006719679.1:p.Ile5231Val | |
| XM_011538770.2:c.15703A>G | XP_011537072.1:p.Ile5235Val | |
| XM_011538771.2:c.15700A>G | XP_011537073.1:p.Ile5234Val | |
| XM_011538772.2:c.15694A>G | XP_011537074.1:p.Ile5232Val | |
| XM_011538773.2:c.15691A>G | XP_011537075.1:p.Ile5231Val | |
| XM_011538774.2:c.15682A>G | XP_011537076.1:p.Ile5228Val | |
| XM_011538776.2:c.15610A>G | XP_011537078.1:p.Ile5204Val | |
| XR_001748874.1:n.15962-1326A>G | ||
| NM_003482.4:c.15694A>G MANE Select | NP_003473.3:p.Ile5232Val |