Linked Data
dbSNP Id:
rs759698474
ExAC:
11:118962854 G / T
gnomAD v2:
11-118962854-G-T
gnomAD v4:
11-119092144-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092144G>T , CM000673.2:g.119092144G>T | GRCh38 |
| NC_000011.9:g.118962854G>T , CM000673.1:g.118962854G>T | GRCh37 |
| NC_000011.8:g.118468064G>T | NCBI36 |
| NG_008093.1:g.12268G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.467G>T | ENSP00000509288.1:p.Cys156Phe | |
| ENST00000691144.1:n.2373G>T | ||
| ENST00000691249.1:n.1216G>T | ||
| ENST00000442944.7:c.614G>T | ENSP00000392041.3:p.Cys205Phe | |
| ENST00000536813.6:c.581G>T | ENSP00000438726.2:p.Cys194Phe | |
| ENST00000546302.6:c.554G>T | ENSP00000445599.1:p.Cys185Phe | |
| ENST00000640813.1:c.462-260G>T | ENSP00000491061.1:n.462-260G>T | |
| ENST00000648026.1:c.526G>T | ENSP00000498044.1:p.Ala176Ser | |
| ENST00000648374.1:c.581G>T | ENSP00000497255.1:p.Cys194Phe | |
| ENST00000648488.1:c.*105G>T | ENSP00000498079.1:n.*105G>T | |
| ENST00000649823.1:n.849G>T | ||
| ENST00000650101.1:c.563G>T | ENSP00000496970.1:p.Cys188Phe | |
| ENST00000650307.1:n.1458G>T | ||
| ENST00000652429.1:c.632G>T MANE Select | ENSP00000498786.1:p.Cys211Phe | |
| ENST00000278715.7:c.632G>T | ENSP00000278715.3:p.Cys211Phe | |
| ENST00000392841.1:c.581G>T | ENSP00000376584.1:p.Cys194Phe | |
| ENST00000442944.6:c.581G>T | ENSP00000392041.2:p.Cys194Phe | |
| ENST00000537841.5:c.581G>T | ENSP00000444730.1:p.Cys194Phe | |
| ENST00000542044.5:n.1077G>T | ||
| ENST00000542345.5:n.770G>T | ||
| ENST00000542729.5:c.581G>T | ENSP00000443058.1:p.Cys194Phe | |
| ENST00000543090.5:c.559-260G>T | ENSP00000445429.1:n.559-260G>T | |
| ENST00000543543.5:n.867G>T | ||
| ENST00000544182.1:n.607G>T | ||
| ENST00000544387.5:c.632G>T | ENSP00000438424.1:p.Cys211Phe | |
| ENST00000545621.5:c.*527G>T | ENSP00000444849.1:n.*527G>T | |
| ENST00000546226.5:n.920G>T | ||
| ENST00000546302.5:c.554G>T | ENSP00000445599.1:p.Cys185Phe | |
| NM_000190.3:c.632G>T | NP_000181.2:p.Cys211Phe | |
| NM_001024382.1:c.581G>T | NP_001019553.1:p.Cys194Phe | |
| NM_001258208.1:c.632G>T | NP_001245137.1:p.Cys211Phe | |
| NM_001258209.1:c.581G>T | NP_001245138.1:p.Cys194Phe | |
| XM_005271531.1:c.581G>T | XP_005271588.1:p.Cys194Phe | |
| XM_005271532.1:c.581G>T | XP_005271589.1:p.Cys194Phe | |
| XM_005271533.2:c.578G>T | XP_005271590.1:p.Cys193Phe | |
| XM_011542796.1:c.467G>T | XP_011541098.1:p.Cys156Phe | |
| NM_000190.4:c.632G>T MANE Select | NP_000181.2:p.Cys211Phe | |
| NM_001024382.2:c.581G>T | NP_001019553.1:p.Cys194Phe | |
| XM_005271533.3:c.578G>T | XP_005271590.1:p.Cys193Phe | |
| XM_017017629.1:c.581G>T | XP_016873118.1:p.Cys194Phe | |
| XM_024448460.1:c.578G>T | XP_024304228.1:p.Cys193Phe | |
| NM_001258208.2:c.632G>T | NP_001245137.1:p.Cys211Phe | |
| NM_001258209.2:c.581G>T | NP_001245138.1:p.Cys194Phe |