Linked Data
ClinVar Variation Id:
880034
dbSNP Id:
rs746707121
ExAC:
11:118963832 C / T
gnomAD v2:
11-118963832-C-T
gnomAD v3:
11-119093122-C-T
gnomAD v4:
11-119093122-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119093122C>T , CM000673.2:g.119093122C>T | GRCh38 |
| NC_000011.9:g.118963832C>T , CM000673.1:g.118963832C>T | GRCh37 |
| NC_000011.8:g.118469042C>T | NCBI36 |
| NG_008093.1:g.13246C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.760C>T | ENSP00000509288.1:p.Pro254Ser | |
| ENST00000691144.1:n.3140C>T | ||
| ENST00000691249.1:n.1749C>T | ||
| ENST00000442944.7:c.907C>T | ENSP00000392041.3:p.Pro303Ser | |
| ENST00000640813.1:c.*162C>T | ENSP00000491061.1:n.*162C>T | |
| ENST00000648026.1:c.819C>T | ENSP00000498044.1:n.819C>T | |
| ENST00000648374.1:c.874C>T | ENSP00000497255.1:p.Pro292Ser | |
| ENST00000650101.1:c.856C>T | ENSP00000496970.1:p.Pro286Ser | |
| ENST00000650307.1:n.1751C>T | ||
| ENST00000652429.1:c.925C>T MANE Select | ENSP00000498786.1:p.Pro309Ser | |
| ENST00000278715.7:c.925C>T | ENSP00000278715.3:p.Pro309Ser | |
| ENST00000392841.1:c.874C>T | ENSP00000376584.1:p.Pro292Ser | |
| ENST00000442944.6:c.874C>T | ENSP00000392041.2:p.Pro292Ser | |
| ENST00000537841.5:c.874C>T | ENSP00000444730.1:p.Pro292Ser | |
| ENST00000539045.1:n.424C>T | ||
| ENST00000542044.5:n.1370C>T | ||
| ENST00000542729.5:c.754C>T | ENSP00000443058.1:p.Pro252Ser | |
| ENST00000543090.5:c.832C>T | ENSP00000445429.1:p.Pro278Ser | |
| ENST00000543543.5:n.1400C>T | ||
| ENST00000544182.1:n.1374C>T | ||
| ENST00000544387.5:c.805C>T | ENSP00000438424.1:p.Pro269Ser | |
| ENST00000546226.5:n.1687C>T | ||
| NM_000190.3:c.925C>T | NP_000181.2:p.Pro309Ser | |
| NM_001024382.1:c.874C>T | NP_001019553.1:p.Pro292Ser | |
| NM_001258208.1:c.805C>T | NP_001245137.1:p.Pro269Ser | |
| NM_001258209.1:c.754C>T | NP_001245138.1:p.Pro252Ser | |
| XM_005271531.1:c.874C>T | XP_005271588.1:p.Pro292Ser | |
| XM_005271532.1:c.874C>T | XP_005271589.1:p.Pro292Ser | |
| XM_005271533.2:c.871C>T | XP_005271590.1:p.Pro291Ser | |
| XM_011542796.1:c.760C>T | XP_011541098.1:p.Pro254Ser | |
| NM_000190.4:c.925C>T MANE Select | NP_000181.2:p.Pro309Ser | |
| NM_001024382.2:c.874C>T | NP_001019553.1:p.Pro292Ser | |
| XM_005271533.3:c.871C>T | XP_005271590.1:p.Pro291Ser | |
| XM_017017629.1:c.874C>T | XP_016873118.1:p.Pro292Ser | |
| XM_024448460.1:c.751C>T | XP_024304228.1:p.Pro251Ser | |
| NM_001258208.2:c.805C>T | NP_001245137.1:p.Pro269Ser | |
| NM_001258209.2:c.754C>T | NP_001245138.1:p.Pro252Ser |