Linked Data
ClinVar Variation Id:
246374
dbSNP Id:
rs139522696
ExAC:
11:9838534 G / C
gnomAD v2:
11-9838534-G-C
gnomAD v3:
11-9816987-G-C
gnomAD v4:
11-9816987-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9816987G>C , CM000673.2:g.9816987G>C | GRCh38 |
| NC_000011.9:g.9838534G>C , CM000673.1:g.9838534G>C | GRCh37 |
| NC_000011.8:g.9795110G>C | NCBI36 |
| NG_008074.1:g.482221C>G , LRG_267:g.482221C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524961.6:n.315C>G | ||
| ENST00000530741.2:c.2394C>G | ENSP00000432643.2:p.Ile798Met | |
| ENST00000532095.2:n.367C>G | ||
| ENST00000675281.2:c.3906C>G | ENSP00000502491.1:p.Ile1302Met | |
| ENST00000676324.2:c.*139C>G | ENSP00000502578.1:n.*139C>G | |
| ENST00000676387.2:c.3888C>G | ENSP00000502779.1:p.Ile1296Met | |
| ENST00000688344.1:c.3438C>G | ENSP00000509987.1:p.Ile1146Met | |
| ENST00000689128.1:c.3927C>G | ENSP00000509587.1:p.Ile1309Met | |
| ENST00000689258.1:c.3768C>G | ENSP00000510475.1:p.Ile1256Met | |
| ENST00000689342.1:c.38C>G | ||
| ENST00000689356.1:n.1002C>G | ||
| ENST00000689597.1:c.2535C>G | ENSP00000510781.1:p.Ile845Met | |
| ENST00000689940.1:c.3825C>G | ENSP00000508452.1:p.Ile1275Met | |
| ENST00000690944.1:c.38C>G | ||
| ENST00000691616.1:n.315C>G | ||
| ENST00000692716.1:c.3702C>G | ENSP00000509545.1:p.Ile1234Met | |
| ENST00000693541.1:n.750C>G | ||
| ENST00000256190.13:c.3831C>G MANE Select | ENSP00000256190.8:p.Ile1277Met | |
| ENST00000675281.1:c.3906C>G | ENSP00000502491.1:p.Ile1302Met | |
| ENST00000676324.1:c.*139C>G | ENSP00000502578.1:n.*139C>G | |
| ENST00000676387.1:c.3888C>G | ENSP00000502779.1:p.Ile1296Met | |
| ENST00000256190.12:c.3831C>G | ENSP00000256190.8:p.Ile1277Met | |
| ENST00000524961.5:n.315C>G | ||
| ENST00000530741.1:c.578C>G | ||
| ENST00000533584.1:n.351C>G | ||
| ENST00000617179.4:c.3690C>G | ENSP00000482806.1:p.Ile1230Met | |
| NM_030962.3:c.3831C>G , LRG_267t1:c.3831C>G | NP_112224.1:p.Ile1277Met | |
| XM_005253154.3:c.3927C>G | XP_005253211.1:p.Ile1309Met | |
| XM_005253155.3:c.3798C>G | XP_005253212.1:p.Ile1266Met | |
| XM_011520394.1:c.3813C>G | XP_011518696.1:p.Ile1271Met | |
| XM_005253154.5:c.3927C>G | XP_005253211.1:p.Ile1309Met | |
| XM_005253155.5:c.3798C>G | XP_005253212.1:p.Ile1266Met | |
| XM_011520394.3:c.3813C>G | XP_011518696.1:p.Ile1271Met | |
| XM_017018372.2:c.3789C>G | XP_016873861.1:p.Ile1263Met | |
| XM_017018373.2:c.3789C>G | XP_016873862.1:p.Ile1263Met | |
| XM_017018374.2:c.3702C>G | XP_016873863.1:p.Ile1234Met | |
| XM_017018375.2:c.3690C>G | XP_016873864.1:p.Ile1230Met | |
| XR_001747994.2:n.4065C>G | ||
| NM_001386339.1:c.3927C>G | NP_001373268.1:p.Ile1309Met | |
| NM_001386342.1:c.3702C>G | NP_001373271.1:p.Ile1234Met | |
| NM_030962.4:c.3831C>G MANE Select | NP_112224.1:p.Ile1277Met |