Linked Data
dbSNP Id:
rs894336655
gnomAD v2:
11-118963886-C-T
gnomAD v3:
11-119093176-C-T
gnomAD v4:
11-119093176-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119093176C>T , CM000673.2:g.119093176C>T | GRCh38 |
| NC_000011.9:g.118963886C>T , CM000673.1:g.118963886C>T | GRCh37 |
| NC_000011.8:g.118469096C>T | NCBI36 |
| NG_008093.1:g.13300C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.814C>T | ENSP00000509288.1:p.Pro272Ser | |
| ENST00000691144.1:n.3194C>T | ||
| ENST00000691249.1:n.1803C>T | ||
| ENST00000442944.7:c.961C>T | ENSP00000392041.3:p.Pro321Ser | |
| ENST00000640813.1:c.*216C>T | ENSP00000491061.1:n.*216C>T | |
| ENST00000648026.1:c.873C>T | ENSP00000498044.1:n.873C>T | |
| ENST00000648374.1:c.928C>T | ENSP00000497255.1:p.Pro310Ser | |
| ENST00000650101.1:c.910C>T | ENSP00000496970.1:p.Pro304Ser | |
| ENST00000650307.1:n.1805C>T | ||
| ENST00000652429.1:c.979C>T MANE Select | ENSP00000498786.1:p.Pro327Ser | |
| ENST00000278715.7:c.979C>T | ENSP00000278715.3:p.Pro327Ser | |
| ENST00000392841.1:c.928C>T | ENSP00000376584.1:p.Pro310Ser | |
| ENST00000442944.6:c.928C>T | ENSP00000392041.2:p.Pro310Ser | |
| ENST00000537841.5:c.928C>T | ENSP00000444730.1:p.Pro310Ser | |
| ENST00000539045.1:n.478C>T | ||
| ENST00000542044.5:n.1424C>T | ||
| ENST00000542729.5:c.808C>T | ENSP00000443058.1:p.Pro270Ser | |
| ENST00000543090.5:c.886C>T | ENSP00000445429.1:p.Pro296Ser | |
| ENST00000543543.5:n.1454C>T | ||
| ENST00000544182.1:n.1428C>T | ||
| ENST00000544387.5:c.859C>T | ENSP00000438424.1:p.Pro287Ser | |
| ENST00000546226.5:n.1741C>T | ||
| NM_000190.3:c.979C>T | NP_000181.2:p.Pro327Ser | |
| NM_001024382.1:c.928C>T | NP_001019553.1:p.Pro310Ser | |
| NM_001258208.1:c.859C>T | NP_001245137.1:p.Pro287Ser | |
| NM_001258209.1:c.808C>T | NP_001245138.1:p.Pro270Ser | |
| XM_005271531.1:c.928C>T | XP_005271588.1:p.Pro310Ser | |
| XM_005271532.1:c.928C>T | XP_005271589.1:p.Pro310Ser | |
| XM_005271533.2:c.925C>T | XP_005271590.1:p.Pro309Ser | |
| XM_011542796.1:c.814C>T | XP_011541098.1:p.Pro272Ser | |
| NM_000190.4:c.979C>T MANE Select | NP_000181.2:p.Pro327Ser | |
| NM_001024382.2:c.928C>T | NP_001019553.1:p.Pro310Ser | |
| XM_005271533.3:c.925C>T | XP_005271590.1:p.Pro309Ser | |
| XM_017017629.1:c.928C>T | XP_016873118.1:p.Pro310Ser | |
| XM_024448460.1:c.805C>T | XP_024304228.1:p.Pro269Ser | |
| NM_001258208.2:c.859C>T | NP_001245137.1:p.Pro287Ser | |
| NM_001258209.2:c.808C>T | NP_001245138.1:p.Pro270Ser |