Linked Data
ClinVar Variation Id:
880033
ClinVar RCV Id:
RCV001108008
dbSNP Id:
rs772616498
ExAC:
11:118963708 G / T
gnomAD v2:
11-118963708-G-T
gnomAD v3:
11-119092998-G-T
gnomAD v4:
11-119092998-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092998G>T , CM000673.2:g.119092998G>T | GRCh38 |
| NC_000011.9:g.118963708G>T , CM000673.1:g.118963708G>T | GRCh37 |
| NC_000011.8:g.118468918G>T | NCBI36 |
| NG_008093.1:g.13122G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.724G>T | ENSP00000509288.1:p.Ala242Ser | |
| ENST00000691144.1:n.3104G>T | ||
| ENST00000691249.1:n.1713G>T | ||
| ENST00000442944.7:c.871G>T | ENSP00000392041.3:p.Ala291Ser | |
| ENST00000640813.1:c.*126G>T | ENSP00000491061.1:n.*126G>T | |
| ENST00000648026.1:c.783G>T | ENSP00000498044.1:n.783G>T | |
| ENST00000648374.1:c.838G>T | ENSP00000497255.1:p.Ala280Ser | |
| ENST00000650101.1:c.820G>T | ENSP00000496970.1:p.Ala274Ser | |
| ENST00000650307.1:n.1715G>T | ||
| ENST00000652429.1:c.889G>T MANE Select | ENSP00000498786.1:p.Ala297Ser | |
| ENST00000278715.7:c.889G>T | ENSP00000278715.3:p.Ala297Ser | |
| ENST00000392841.1:c.838G>T | ENSP00000376584.1:p.Ala280Ser | |
| ENST00000442944.6:c.838G>T | ENSP00000392041.2:p.Ala280Ser | |
| ENST00000537841.5:c.838G>T | ENSP00000444730.1:p.Ala280Ser | |
| ENST00000539045.1:n.388G>T | ||
| ENST00000542044.5:n.1334G>T | ||
| ENST00000542729.5:c.718G>T | ENSP00000443058.1:p.Ala240Ser | |
| ENST00000543090.5:c.796G>T | ENSP00000445429.1:p.Ala266Ser | |
| ENST00000543543.5:n.1364G>T | ||
| ENST00000544182.1:n.1338G>T | ||
| ENST00000544387.5:c.769G>T | ENSP00000438424.1:p.Ala257Ser | |
| ENST00000546226.5:n.1651G>T | ||
| NM_000190.3:c.889G>T | NP_000181.2:p.Ala297Ser | |
| NM_001024382.1:c.838G>T | NP_001019553.1:p.Ala280Ser | |
| NM_001258208.1:c.769G>T | NP_001245137.1:p.Ala257Ser | |
| NM_001258209.1:c.718G>T | NP_001245138.1:p.Ala240Ser | |
| XM_005271531.1:c.838G>T | XP_005271588.1:p.Ala280Ser | |
| XM_005271532.1:c.838G>T | XP_005271589.1:p.Ala280Ser | |
| XM_005271533.2:c.835G>T | XP_005271590.1:p.Ala279Ser | |
| XM_011542796.1:c.724G>T | XP_011541098.1:p.Ala242Ser | |
| NM_000190.4:c.889G>T MANE Select | NP_000181.2:p.Ala297Ser | |
| NM_001024382.2:c.838G>T | NP_001019553.1:p.Ala280Ser | |
| XM_005271533.3:c.835G>T | XP_005271590.1:p.Ala279Ser | |
| XM_017017629.1:c.838G>T | XP_016873118.1:p.Ala280Ser | |
| XM_024448460.1:c.715G>T | XP_024304228.1:p.Ala239Ser | |
| NM_001258208.2:c.769G>T | NP_001245137.1:p.Ala257Ser | |
| NM_001258209.2:c.718G>T | NP_001245138.1:p.Ala240Ser |