Linked Data
ClinVar Variation Id:
241611
dbSNP Id:
rs147597665
ExAC:
11:9838522 T / C
gnomAD v2:
11-9838522-T-C
gnomAD v3:
11-9816975-T-C
gnomAD v4:
11-9816975-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9816975T>C , CM000673.2:g.9816975T>C | GRCh38 |
| NC_000011.9:g.9838522T>C , CM000673.1:g.9838522T>C | GRCh37 |
| NC_000011.8:g.9795098T>C | NCBI36 |
| NG_008074.1:g.482233A>G , LRG_267:g.482233A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524961.6:n.327A>G | ||
| ENST00000530741.2:c.2406A>G | ENSP00000432643.2:p.Thr802= | |
| ENST00000532095.2:n.379A>G | ||
| ENST00000675281.2:c.3918A>G | ENSP00000502491.1:p.Thr1306= | |
| ENST00000676324.2:c.*151A>G | ENSP00000502578.1:n.*151A>G | |
| ENST00000676387.2:c.3900A>G | ENSP00000502779.1:p.Thr1300= | |
| ENST00000688344.1:c.3450A>G | ENSP00000509987.1:p.Thr1150= | |
| ENST00000689128.1:c.3939A>G | ENSP00000509587.1:p.Thr1313= | |
| ENST00000689258.1:c.3780A>G | ENSP00000510475.1:p.Thr1260= | |
| ENST00000689342.1:c.50A>G | ||
| ENST00000689356.1:n.1014A>G | ||
| ENST00000689597.1:c.2547A>G | ENSP00000510781.1:p.Thr849= | |
| ENST00000689940.1:c.3837A>G | ENSP00000508452.1:p.Thr1279= | |
| ENST00000690944.1:c.50A>G | ||
| ENST00000691616.1:n.327A>G | ||
| ENST00000692716.1:c.3714A>G | ENSP00000509545.1:p.Thr1238= | |
| ENST00000693541.1:n.762A>G | ||
| ENST00000256190.13:c.3843A>G MANE Select | ENSP00000256190.8:p.Thr1281= | |
| ENST00000675281.1:c.3918A>G | ENSP00000502491.1:p.Thr1306= | |
| ENST00000676324.1:c.*151A>G | ENSP00000502578.1:n.*151A>G | |
| ENST00000676387.1:c.3900A>G | ENSP00000502779.1:p.Thr1300= | |
| ENST00000256190.12:c.3843A>G | ENSP00000256190.8:p.Thr1281= | |
| ENST00000524961.5:n.327A>G | ||
| ENST00000530741.1:c.590A>G | ||
| ENST00000533584.1:n.363A>G | ||
| ENST00000617179.4:c.3702A>G | ENSP00000482806.1:p.Thr1234= | |
| NM_030962.3:c.3843A>G , LRG_267t1:c.3843A>G | NP_112224.1:p.Thr1281= | |
| XM_005253154.3:c.3939A>G | XP_005253211.1:p.Thr1313= | |
| XM_005253155.3:c.3810A>G | XP_005253212.1:p.Thr1270= | |
| XM_011520394.1:c.3825A>G | XP_011518696.1:p.Thr1275= | |
| XM_005253154.5:c.3939A>G | XP_005253211.1:p.Thr1313= | |
| XM_005253155.5:c.3810A>G | XP_005253212.1:p.Thr1270= | |
| XM_011520394.3:c.3825A>G | XP_011518696.1:p.Thr1275= | |
| XM_017018372.2:c.3801A>G | XP_016873861.1:p.Thr1267= | |
| XM_017018373.2:c.3801A>G | XP_016873862.1:p.Thr1267= | |
| XM_017018374.2:c.3714A>G | XP_016873863.1:p.Thr1238= | |
| XM_017018375.2:c.3702A>G | XP_016873864.1:p.Thr1234= | |
| XR_001747994.2:n.4077A>G | ||
| NM_001386339.1:c.3939A>G | NP_001373268.1:p.Thr1313= | |
| NM_001386342.1:c.3714A>G | NP_001373271.1:p.Thr1238= | |
| NM_030962.4:c.3843A>G MANE Select | NP_112224.1:p.Thr1281= |