Linked Data
ClinVar Variation Id:
219812
dbSNP Id:
rs145351367
ExAC:
11:9838546 G / A
gnomAD v2:
11-9838546-G-A
gnomAD v3:
11-9816999-G-A
gnomAD v4:
11-9816999-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9816999G>A , CM000673.2:g.9816999G>A | GRCh38 |
| NC_000011.9:g.9838546G>A , CM000673.1:g.9838546G>A | GRCh37 |
| NC_000011.8:g.9795122G>A | NCBI36 |
| NG_008074.1:g.482209C>T , LRG_267:g.482209C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524961.6:n.303C>T | ||
| ENST00000530741.2:c.2382C>T | ENSP00000432643.2:p.Ser794= | |
| ENST00000532095.2:n.355C>T | ||
| ENST00000675281.2:c.3894C>T | ENSP00000502491.1:p.Ser1298= | |
| ENST00000676324.2:c.*127C>T | ENSP00000502578.1:n.*127C>T | |
| ENST00000676387.2:c.3876C>T | ENSP00000502779.1:p.Ser1292= | |
| ENST00000688344.1:c.3426C>T | ENSP00000509987.1:p.Ser1142= | |
| ENST00000689128.1:c.3915C>T | ENSP00000509587.1:p.Ser1305= | |
| ENST00000689258.1:c.3756C>T | ENSP00000510475.1:p.Ser1252= | |
| ENST00000689342.1:c.26C>T | ||
| ENST00000689356.1:n.990C>T | ||
| ENST00000689597.1:c.2523C>T | ENSP00000510781.1:p.Ser841= | |
| ENST00000689940.1:c.3813C>T | ENSP00000508452.1:p.Ser1271= | |
| ENST00000690944.1:c.26C>T | ||
| ENST00000691616.1:n.303C>T | ||
| ENST00000692716.1:c.3690C>T | ENSP00000509545.1:p.Ser1230= | |
| ENST00000693541.1:n.738C>T | ||
| ENST00000256190.13:c.3819C>T MANE Select | ENSP00000256190.8:p.Ser1273= | |
| ENST00000675281.1:c.3894C>T | ENSP00000502491.1:p.Ser1298= | |
| ENST00000676324.1:c.*127C>T | ENSP00000502578.1:n.*127C>T | |
| ENST00000676387.1:c.3876C>T | ENSP00000502779.1:p.Ser1292= | |
| ENST00000256190.12:c.3819C>T | ENSP00000256190.8:p.Ser1273= | |
| ENST00000524961.5:n.303C>T | ||
| ENST00000530741.1:c.566C>T | ||
| ENST00000533584.1:n.339C>T | ||
| ENST00000617179.4:c.3678C>T | ENSP00000482806.1:p.Ser1226= | |
| NM_030962.3:c.3819C>T , LRG_267t1:c.3819C>T | NP_112224.1:p.Ser1273= | |
| XM_005253154.3:c.3915C>T | XP_005253211.1:p.Ser1305= | |
| XM_005253155.3:c.3786C>T | XP_005253212.1:p.Ser1262= | |
| XM_011520394.1:c.3801C>T | XP_011518696.1:p.Ser1267= | |
| XM_005253154.5:c.3915C>T | XP_005253211.1:p.Ser1305= | |
| XM_005253155.5:c.3786C>T | XP_005253212.1:p.Ser1262= | |
| XM_011520394.3:c.3801C>T | XP_011518696.1:p.Ser1267= | |
| XM_017018372.2:c.3777C>T | XP_016873861.1:p.Ser1259= | |
| XM_017018373.2:c.3777C>T | XP_016873862.1:p.Ser1259= | |
| XM_017018374.2:c.3690C>T | XP_016873863.1:p.Ser1230= | |
| XM_017018375.2:c.3678C>T | XP_016873864.1:p.Ser1226= | |
| XR_001747994.2:n.4053C>T | ||
| NM_001386339.1:c.3915C>T | NP_001373268.1:p.Ser1305= | |
| NM_001386342.1:c.3690C>T | NP_001373271.1:p.Ser1230= | |
| NM_030962.4:c.3819C>T MANE Select | NP_112224.1:p.Ser1273= |