Linked Data
ClinVar Variation Id:
1382821
ClinVar RCV Id:
RCV001922308
dbSNP Id:
rs755584861
ExAC:
11:118963123 G / A
gnomAD v2:
11-118963123-G-A
gnomAD v3:
11-119092413-G-A
gnomAD v4:
11-119092413-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092413G>A , CM000673.2:g.119092413G>A | GRCh38 |
| NC_000011.9:g.118963123G>A , CM000673.1:g.118963123G>A | GRCh37 |
| NC_000011.8:g.118468333G>A | NCBI36 |
| NG_008093.1:g.12537G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686218.1:c.496G>A | ENSP00000509288.1:p.Gly166Ser | |
| ENST00000691144.1:n.2642G>A | ||
| ENST00000691249.1:n.1485G>A | ||
| ENST00000442944.7:c.643G>A | ENSP00000392041.3:p.Gly215Ser | |
| ENST00000536813.6:c.610G>A | ENSP00000438726.2:p.Gly204Ser | |
| ENST00000640813.1:c.471G>A | ENSP00000491061.1:p.Trp157Ter | |
| ENST00000648026.1:c.555G>A | ENSP00000498044.1:p.Trp185Ter | |
| ENST00000648374.1:c.610G>A | ENSP00000497255.1:p.Gly204Ser | |
| ENST00000649823.1:n.1118G>A | ||
| ENST00000650101.1:c.592G>A | ENSP00000496970.1:p.Gly198Ser | |
| ENST00000650307.1:n.1487G>A | ||
| ENST00000652429.1:c.661G>A MANE Select | ENSP00000498786.1:p.Gly221Ser | |
| ENST00000278715.7:c.661G>A | ENSP00000278715.3:p.Gly221Ser | |
| ENST00000392841.1:c.610G>A | ENSP00000376584.1:p.Gly204Ser | |
| ENST00000442944.6:c.610G>A | ENSP00000392041.2:p.Gly204Ser | |
| ENST00000537841.5:c.610G>A | ENSP00000444730.1:p.Gly204Ser | |
| ENST00000542044.5:n.1106G>A | ||
| ENST00000542729.5:c.600+250G>A | ENSP00000443058.1:n.600+250G>A | |
| ENST00000543090.5:c.568G>A | ENSP00000445429.1:p.Gly190Ser | |
| ENST00000543543.5:n.1136G>A | ||
| ENST00000544182.1:n.876G>A | ||
| ENST00000544387.5:c.651+250G>A | ENSP00000438424.1:n.651+250G>A | |
| ENST00000545621.5:c.*796G>A | ENSP00000444849.1:n.*796G>A | |
| ENST00000546226.5:n.1189G>A | ||
| NM_000190.3:c.661G>A | NP_000181.2:p.Gly221Ser | |
| NM_001024382.1:c.610G>A | NP_001019553.1:p.Gly204Ser | |
| NM_001258208.1:c.651+250G>A | NP_001245137.1:n.651+250G>A | |
| NM_001258209.1:c.600+250G>A | NP_001245138.1:n.600+250G>A | |
| XM_005271531.1:c.610G>A | XP_005271588.1:p.Gly204Ser | |
| XM_005271532.1:c.610G>A | XP_005271589.1:p.Gly204Ser | |
| XM_005271533.2:c.607G>A | XP_005271590.1:p.Gly203Ser | |
| XM_011542796.1:c.496G>A | XP_011541098.1:p.Gly166Ser | |
| NM_000190.4:c.661G>A MANE Select | NP_000181.2:p.Gly221Ser | |
| NM_001024382.2:c.610G>A | NP_001019553.1:p.Gly204Ser | |
| XM_005271533.3:c.607G>A | XP_005271590.1:p.Gly203Ser | |
| XM_017017629.1:c.610G>A | XP_016873118.1:p.Gly204Ser | |
| XM_024448460.1:c.597+250G>A | XP_024304228.1:n.597+250G>A | |
| NM_001258208.2:c.651+250G>A | NP_001245137.1:n.651+250G>A | |
| NM_001258209.2:c.600+250G>A | NP_001245138.1:n.600+250G>A |