Linked Data
dbSNP Id:
rs753280372
ExAC:
11:118963212 A / G
gnomAD v2:
11-118963212-A-G
gnomAD v4:
11-119092502-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092502A>G , CM000673.2:g.119092502A>G | GRCh38 |
| NC_000011.9:g.118963212A>G , CM000673.1:g.118963212A>G | GRCh37 |
| NC_000011.8:g.118468422A>G | NCBI36 |
| NG_008093.1:g.12626A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686218.1:c.585A>G | ENSP00000509288.1:p.Glu195= | |
| ENST00000691144.1:n.2731A>G | ||
| ENST00000691249.1:n.1574A>G | ||
| ENST00000442944.7:c.732A>G | ENSP00000392041.3:p.Glu244= | |
| ENST00000640813.1:c.560A>G | ENSP00000491061.1:p.Lys187Arg | |
| ENST00000648026.1:c.644A>G | ENSP00000498044.1:p.Lys215Arg | |
| ENST00000648374.1:c.699A>G | ENSP00000497255.1:p.Glu233= | |
| ENST00000649823.1:n.1207A>G | ||
| ENST00000650101.1:c.681A>G | ENSP00000496970.1:p.Glu227= | |
| ENST00000650307.1:n.1576A>G | ||
| ENST00000652429.1:c.750A>G MANE Select | ENSP00000498786.1:p.Glu250= | |
| ENST00000278715.7:c.750A>G | ENSP00000278715.3:p.Glu250= | |
| ENST00000392841.1:c.699A>G | ENSP00000376584.1:p.Glu233= | |
| ENST00000442944.6:c.699A>G | ENSP00000392041.2:p.Glu233= | |
| ENST00000537841.5:c.699A>G | ENSP00000444730.1:p.Glu233= | |
| ENST00000542044.5:n.1195A>G | ||
| ENST00000542729.5:c.601-256A>G | ENSP00000443058.1:n.601-256A>G | |
| ENST00000543090.5:c.657A>G | ENSP00000445429.1:p.Glu219= | |
| ENST00000543543.5:n.1225A>G | ||
| ENST00000544182.1:n.965A>G | ||
| ENST00000544387.5:c.652-256A>G | ENSP00000438424.1:n.652-256A>G | |
| ENST00000546226.5:n.1278A>G | ||
| NM_000190.3:c.750A>G | NP_000181.2:p.Glu250= | |
| NM_001024382.1:c.699A>G | NP_001019553.1:p.Glu233= | |
| NM_001258208.1:c.652-256A>G | NP_001245137.1:n.652-256A>G | |
| NM_001258209.1:c.601-256A>G | NP_001245138.1:n.601-256A>G | |
| XM_005271531.1:c.699A>G | XP_005271588.1:p.Glu233= | |
| XM_005271532.1:c.699A>G | XP_005271589.1:p.Glu233= | |
| XM_005271533.2:c.696A>G | XP_005271590.1:p.Glu232= | |
| XM_011542796.1:c.585A>G | XP_011541098.1:p.Glu195= | |
| NM_000190.4:c.750A>G MANE Select | NP_000181.2:p.Glu250= | |
| NM_001024382.2:c.699A>G | NP_001019553.1:p.Glu233= | |
| XM_005271533.3:c.696A>G | XP_005271590.1:p.Glu232= | |
| XM_017017629.1:c.699A>G | XP_016873118.1:p.Glu233= | |
| XM_024448460.1:c.598-256A>G | XP_024304228.1:n.598-256A>G | |
| NM_001258208.2:c.652-256A>G | NP_001245137.1:n.652-256A>G | |
| NM_001258209.2:c.601-256A>G | NP_001245138.1:n.601-256A>G |