Linked Data
ClinVar Variation Id:
246568
dbSNP Id:
rs139967004
ExAC:
11:9850942 T / A
gnomAD v2:
11-9850942-T-A
gnomAD v3:
11-9829395-T-A
gnomAD v4:
11-9829395-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9829395T>A , CM000673.2:g.9829395T>A | GRCh38 |
| NC_000011.9:g.9850942T>A , CM000673.1:g.9850942T>A | GRCh37 |
| NC_000011.8:g.9807518T>A | NCBI36 |
| NG_008074.1:g.469813A>T , LRG_267:g.469813A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530741.2:c.2356+2829A>T | ENSP00000432643.2:n.2356+2829A>T | |
| ENST00000675281.2:c.3754A>T | ENSP00000502491.1:p.Ser1252Cys | |
| ENST00000676324.2:c.3754A>T | ENSP00000502578.1:p.Ser1252Cys | |
| ENST00000676387.2:c.3640A>T | ENSP00000502779.1:p.Ser1214Cys | |
| ENST00000688344.1:c.3361A>T | ENSP00000509987.1:p.Ser1121Cys | |
| ENST00000689128.1:c.3754A>T | ENSP00000509587.1:p.Ser1252Cys | |
| ENST00000689258.1:c.3616A>T | ENSP00000510475.1:p.Ser1206Cys | |
| ENST00000689356.1:n.925A>T | ||
| ENST00000689597.1:c.2458A>T | ENSP00000510781.1:p.Ser820Cys | |
| ENST00000689940.1:c.3748A>T | ENSP00000508452.1:p.Ser1250Cys | |
| ENST00000692716.1:c.3625A>T | ENSP00000509545.1:p.Ser1209Cys | |
| ENST00000256190.13:c.3754A>T MANE Select | ENSP00000256190.8:p.Ser1252Cys | |
| ENST00000675281.1:c.3754A>T | ENSP00000502491.1:p.Ser1252Cys | |
| ENST00000676324.1:c.3754A>T | ENSP00000502578.1:p.Ser1252Cys | |
| ENST00000676387.1:c.3640A>T | ENSP00000502779.1:p.Ser1214Cys | |
| ENST00000256190.12:c.3754A>T | ENSP00000256190.8:p.Ser1252Cys | |
| ENST00000530741.1:c.405A>T | ||
| ENST00000533584.1:n.274A>T | ||
| ENST00000617179.4:c.3613A>T | ENSP00000482806.1:p.Ser1205Cys | |
| NM_030962.3:c.3754A>T , LRG_267t1:c.3754A>T | NP_112224.1:p.Ser1252Cys | |
| XM_005253154.3:c.3754A>T | XP_005253211.1:p.Ser1252Cys | |
| XM_005253155.3:c.3625A>T | XP_005253212.1:p.Ser1209Cys | |
| XM_011520394.1:c.3640A>T | XP_011518696.1:p.Ser1214Cys | |
| XM_011520395.1:c.3754A>T | XP_011518697.1:p.Ser1252Cys | |
| XM_005253154.5:c.3754A>T | XP_005253211.1:p.Ser1252Cys | |
| XM_005253155.5:c.3625A>T | XP_005253212.1:p.Ser1209Cys | |
| XM_011520394.3:c.3640A>T | XP_011518696.1:p.Ser1214Cys | |
| XM_011520395.3:c.3754A>T | XP_011518697.1:p.Ser1252Cys | |
| XM_017018372.2:c.3616A>T | XP_016873861.1:p.Ser1206Cys | |
| XM_017018373.2:c.3616A>T | XP_016873862.1:p.Ser1206Cys | |
| XM_017018374.2:c.3625A>T | XP_016873863.1:p.Ser1209Cys | |
| XM_017018375.2:c.3652+2829A>T | XP_016873864.1:n.3652+2829A>T | |
| XM_017018376.2:c.3754A>T | XP_016873865.1:p.Ser1252Cys | |
| XR_001747994.2:n.3892A>T | ||
| NM_001386339.1:c.3754A>T | NP_001373268.1:p.Ser1252Cys | |
| NM_001386342.1:c.3625A>T | NP_001373271.1:p.Ser1209Cys | |
| NM_030962.4:c.3754A>T MANE Select | NP_112224.1:p.Ser1252Cys |