Linked Data
ClinVar Variation Id:
1333909
ClinVar RCV Id:
RCV001809124
dbSNP Id:
rs1565754479
gnomAD v4:
11-119089238-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119089238A>T , CM000673.2:g.119089238A>T | GRCh38 |
| NC_000011.9:g.118959948A>T , CM000673.1:g.118959948A>T | GRCh37 |
| NC_000011.8:g.118465158A>T | NCBI36 |
| NG_008093.1:g.9362A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.67A>T | ENSP00000509288.1:p.Thr23Ser | |
| ENST00000686690.1:n.853A>T | ||
| ENST00000691144.1:n.1973A>T | ||
| ENST00000691249.1:n.816A>T | ||
| ENST00000442944.7:c.214A>T | ENSP00000392041.3:p.Thr72Ser | |
| ENST00000534956.2:n.181A>T | ||
| ENST00000536813.6:c.181A>T | ENSP00000438726.2:p.Thr61Ser | |
| ENST00000546302.6:c.232A>T | ENSP00000445599.1:p.Thr78Ser | |
| ENST00000640813.1:c.181A>T | ENSP00000491061.1:p.Thr61Ser | |
| ENST00000648026.1:c.226A>T | ENSP00000498044.1:p.Thr76Ser | |
| ENST00000648374.1:c.181A>T | ENSP00000497255.1:p.Thr61Ser | |
| ENST00000648488.1:c.181A>T | ENSP00000498079.1:p.Thr61Ser | |
| ENST00000649823.1:n.449A>T | ||
| ENST00000649868.1:c.87A>T | ENSP00000497548.1:p.Leu29Phe | |
| ENST00000650101.1:c.163A>T | ENSP00000496970.1:p.Thr55Ser | |
| ENST00000650307.1:n.1058A>T | ||
| ENST00000652429.1:c.232A>T MANE Select | ENSP00000498786.1:p.Thr78Ser | |
| ENST00000278715.7:c.232A>T | ENSP00000278715.3:p.Thr78Ser | |
| ENST00000392841.1:c.181A>T | ENSP00000376584.1:p.Thr61Ser | |
| ENST00000442944.6:c.181A>T | ENSP00000392041.2:p.Thr61Ser | |
| ENST00000534956.1:n.148A>T | ||
| ENST00000535253.5:c.181A>T | ENSP00000442079.1:p.Thr61Ser | |
| ENST00000535793.5:c.*127A>T | ENSP00000439904.1:n.*127A>T | |
| ENST00000536185.5:n.350A>T | ||
| ENST00000536813.5:c.214A>T | ENSP00000438726.1:p.Thr72Ser | |
| ENST00000537841.5:c.181A>T | ENSP00000444730.1:p.Thr61Ser | |
| ENST00000539986.5:c.181A>T | ENSP00000440092.1:p.Thr61Ser | |
| ENST00000542044.5:n.677A>T | ||
| ENST00000542345.5:n.370A>T | ||
| ENST00000542729.5:c.181A>T | ENSP00000443058.1:p.Thr61Ser | |
| ENST00000542822.5:c.*168A>T | ENSP00000444817.1:n.*168A>T | |
| ENST00000543090.5:c.178A>T | ENSP00000445429.1:p.Thr60Ser | |
| ENST00000543543.5:n.467A>T | ||
| ENST00000543821.5:n.378A>T | ||
| ENST00000544360.5:n.200A>T | ||
| ENST00000544387.5:c.232A>T | ENSP00000438424.1:p.Thr78Ser | |
| ENST00000545621.5:c.*127A>T | ENSP00000444849.1:n.*127A>T | |
| ENST00000546226.5:n.291A>T | ||
| ENST00000546302.5:c.232A>T | ENSP00000445599.1:p.Thr78Ser | |
| NM_000190.3:c.232A>T | NP_000181.2:p.Thr78Ser | |
| NM_001024382.1:c.181A>T | NP_001019553.1:p.Thr61Ser | |
| NM_001258208.1:c.232A>T | NP_001245137.1:p.Thr78Ser | |
| NM_001258209.1:c.181A>T | NP_001245138.1:p.Thr61Ser | |
| XM_005271531.1:c.181A>T | XP_005271588.1:p.Thr61Ser | |
| XM_005271532.1:c.181A>T | XP_005271589.1:p.Thr61Ser | |
| XM_005271533.2:c.178A>T | XP_005271590.1:p.Thr60Ser | |
| XM_011542796.1:c.67A>T | XP_011541098.1:p.Thr23Ser | |
| NM_000190.4:c.232A>T MANE Select | NP_000181.2:p.Thr78Ser | |
| NM_001024382.2:c.181A>T | NP_001019553.1:p.Thr61Ser | |
| XM_005271533.3:c.178A>T | XP_005271590.1:p.Thr60Ser | |
| XM_017017629.1:c.181A>T | XP_016873118.1:p.Thr61Ser | |
| XM_024448460.1:c.178A>T | XP_024304228.1:p.Thr60Ser | |
| NM_001258208.2:c.232A>T | NP_001245137.1:p.Thr78Ser | |
| NM_001258209.2:c.181A>T | NP_001245138.1:p.Thr61Ser |