Linked Data
dbSNP Id:
rs775679798
ExAC:
11:118962867 G / A
gnomAD v2:
11-118962867-G-A
gnomAD v3:
11-119092157-G-A
gnomAD v4:
11-119092157-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092157G>A , CM000673.2:g.119092157G>A | GRCh38 |
| NC_000011.9:g.118962867G>A , CM000673.1:g.118962867G>A | GRCh37 |
| NC_000011.8:g.118468077G>A | NCBI36 |
| NG_008093.1:g.12281G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.480G>A | ENSP00000509288.1:p.Val160= | |
| ENST00000691144.1:n.2386G>A | ||
| ENST00000691249.1:n.1229G>A | ||
| ENST00000442944.7:c.627G>A | ENSP00000392041.3:p.Val209= | |
| ENST00000536813.6:c.594G>A | ENSP00000438726.2:p.Val198= | |
| ENST00000546302.6:c.567G>A | ENSP00000445599.1:p.Val189= | |
| ENST00000640813.1:c.462-247G>A | ENSP00000491061.1:n.462-247G>A | |
| ENST00000648026.1:c.539G>A | ENSP00000498044.1:p.Trp180Ter | |
| ENST00000648374.1:c.594G>A | ENSP00000497255.1:p.Val198= | |
| ENST00000648488.1:c.*118G>A | ENSP00000498079.1:n.*118G>A | |
| ENST00000649823.1:n.862G>A | ||
| ENST00000650101.1:c.576G>A | ENSP00000496970.1:p.Val192= | |
| ENST00000650307.1:n.1471G>A | ||
| ENST00000652429.1:c.645G>A MANE Select | ENSP00000498786.1:p.Val215= | |
| ENST00000278715.7:c.645G>A | ENSP00000278715.3:p.Val215= | |
| ENST00000392841.1:c.594G>A | ENSP00000376584.1:p.Val198= | |
| ENST00000442944.6:c.594G>A | ENSP00000392041.2:p.Val198= | |
| ENST00000537841.5:c.594G>A | ENSP00000444730.1:p.Val198= | |
| ENST00000542044.5:n.1090G>A | ||
| ENST00000542345.5:n.783G>A | ||
| ENST00000542729.5:c.594G>A | ENSP00000443058.1:p.Val198= | |
| ENST00000543090.5:c.559-247G>A | ENSP00000445429.1:n.559-247G>A | |
| ENST00000543543.5:n.880G>A | ||
| ENST00000544182.1:n.620G>A | ||
| ENST00000544387.5:c.645G>A | ENSP00000438424.1:p.Val215= | |
| ENST00000545621.5:c.*540G>A | ENSP00000444849.1:n.*540G>A | |
| ENST00000546226.5:n.933G>A | ||
| ENST00000546302.5:c.567G>A | ENSP00000445599.1:p.Val189= | |
| NM_000190.3:c.645G>A | NP_000181.2:p.Val215= | |
| NM_001024382.1:c.594G>A | NP_001019553.1:p.Val198= | |
| NM_001258208.1:c.645G>A | NP_001245137.1:p.Val215= | |
| NM_001258209.1:c.594G>A | NP_001245138.1:p.Val198= | |
| XM_005271531.1:c.594G>A | XP_005271588.1:p.Val198= | |
| XM_005271532.1:c.594G>A | XP_005271589.1:p.Val198= | |
| XM_005271533.2:c.591G>A | XP_005271590.1:p.Val197= | |
| XM_011542796.1:c.480G>A | XP_011541098.1:p.Val160= | |
| NM_000190.4:c.645G>A MANE Select | NP_000181.2:p.Val215= | |
| NM_001024382.2:c.594G>A | NP_001019553.1:p.Val198= | |
| XM_005271533.3:c.591G>A | XP_005271590.1:p.Val197= | |
| XM_017017629.1:c.594G>A | XP_016873118.1:p.Val198= | |
| XM_024448460.1:c.591G>A | XP_024304228.1:p.Val197= | |
| NM_001258208.2:c.645G>A | NP_001245137.1:p.Val215= | |
| NM_001258209.2:c.594G>A | NP_001245138.1:p.Val198= |