Linked Data
ClinVar Variation Id:
1456
dbSNP Id:
rs118204101
ExAC:
11:118962123 C / T
gnomAD v2:
11-118962123-C-T
gnomAD v4:
11-119091413-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119091413C>T , CM000673.2:g.119091413C>T | GRCh38 |
| NC_000011.9:g.118962123C>T , CM000673.1:g.118962123C>T | GRCh37 |
| NC_000011.8:g.118467333C>T | NCBI36 |
| NG_008093.1:g.11537C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.334C>T | ENSP00000509288.1:p.Arg112Trp | |
| ENST00000686690.1:n.1349C>T | ||
| ENST00000691144.1:n.2240C>T | ||
| ENST00000691249.1:n.1083C>T | ||
| ENST00000442944.7:c.481C>T | ENSP00000392041.3:p.Arg161Trp | |
| ENST00000534956.2:n.448-448C>T | ||
| ENST00000536813.6:c.448C>T | ENSP00000438726.2:p.Arg150Trp | |
| ENST00000546302.6:c.421C>T | ENSP00000445599.1:p.Arg141Trp | |
| ENST00000640813.1:c.448-448C>T | ENSP00000491061.1:n.448-448C>T | |
| ENST00000648026.1:c.493-448C>T | ENSP00000498044.1:n.493-448C>T | |
| ENST00000648374.1:c.448C>T | ENSP00000497255.1:p.Arg150Trp | |
| ENST00000648488.1:c.*85+157C>T | ENSP00000498079.1:n.*85+157C>T | |
| ENST00000649823.1:n.716C>T | ||
| ENST00000649868.1:c.*207-448C>T | ENSP00000497548.1:n.*207-448C>T | |
| ENST00000650101.1:c.430C>T | ENSP00000496970.1:p.Arg144Trp | |
| ENST00000650307.1:n.1325C>T | ||
| ENST00000652429.1:c.499C>T MANE Select | ENSP00000498786.1:p.Arg167Trp | |
| ENST00000278715.7:c.499C>T | ENSP00000278715.3:p.Arg167Trp | |
| ENST00000392841.1:c.448C>T | ENSP00000376584.1:p.Arg150Trp | |
| ENST00000442944.6:c.448C>T | ENSP00000392041.2:p.Arg150Trp | |
| ENST00000534956.1:n.415-448C>T | ||
| ENST00000535253.5:c.448C>T | ENSP00000442079.1:p.Arg150Trp | |
| ENST00000535793.5:c.*394C>T | ENSP00000439904.1:n.*394C>T | |
| ENST00000537841.5:c.448C>T | ENSP00000444730.1:p.Arg150Trp | |
| ENST00000539986.5:c.448C>T | ENSP00000440092.1:p.Arg150Trp | |
| ENST00000542044.5:n.944C>T | ||
| ENST00000542345.5:n.637C>T | ||
| ENST00000542729.5:c.448C>T | ENSP00000443058.1:p.Arg150Trp | |
| ENST00000542822.5:c.*435C>T | ENSP00000444817.1:n.*435C>T | |
| ENST00000543090.5:c.445C>T | ENSP00000445429.1:p.Arg149Trp | |
| ENST00000543543.5:n.734C>T | ||
| ENST00000544360.5:n.467C>T | ||
| ENST00000544387.5:c.499C>T | ENSP00000438424.1:p.Arg167Trp | |
| ENST00000545621.5:c.*394C>T | ENSP00000444849.1:n.*394C>T | |
| ENST00000546226.5:n.787C>T | ||
| ENST00000546302.5:c.421C>T | ENSP00000445599.1:p.Arg141Trp | |
| NM_000190.3:c.499C>T | NP_000181.2:p.Arg167Trp | |
| NM_001024382.1:c.448C>T | NP_001019553.1:p.Arg150Trp | |
| NM_001258208.1:c.499C>T | NP_001245137.1:p.Arg167Trp | |
| NM_001258209.1:c.448C>T | NP_001245138.1:p.Arg150Trp | |
| XM_005271531.1:c.448C>T | XP_005271588.1:p.Arg150Trp | |
| XM_005271532.1:c.448C>T | XP_005271589.1:p.Arg150Trp | |
| XM_005271533.2:c.445C>T | XP_005271590.1:p.Arg149Trp | |
| XM_011542796.1:c.334C>T | XP_011541098.1:p.Arg112Trp | |
| NM_000190.4:c.499C>T MANE Select | NP_000181.2:p.Arg167Trp | |
| NM_001024382.2:c.448C>T | NP_001019553.1:p.Arg150Trp | |
| XM_005271533.3:c.445C>T | XP_005271590.1:p.Arg149Trp | |
| XM_017017629.1:c.448C>T | XP_016873118.1:p.Arg150Trp | |
| XM_024448460.1:c.445C>T | XP_024304228.1:p.Arg149Trp | |
| NM_001258208.2:c.499C>T | NP_001245137.1:p.Arg167Trp | |
| NM_001258209.2:c.448C>T | NP_001245138.1:p.Arg150Trp |