Linked Data
dbSNP Id:
rs118204100
ExAC:
11:118962217 G / A
gnomAD v4:
11-119091507-G-A
PubMed:
PMID:1961762
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119091507G>A , CM000673.2:g.119091507G>A | GRCh38 |
| NC_000011.9:g.118962217G>A , CM000673.1:g.118962217G>A | GRCh37 |
| NC_000011.8:g.118467427G>A | NCBI36 |
| NG_008093.1:g.11631G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686218.1:c.428G>A | ENSP00000509288.1:p.Trp143Ter | |
| ENST00000686690.1:n.1443G>A | ||
| ENST00000691144.1:n.2334G>A | ||
| ENST00000691249.1:n.1177G>A | ||
| ENST00000442944.7:c.575G>A | ENSP00000392041.3:p.Trp192Ter | |
| ENST00000534956.2:n.448-354G>A | ||
| ENST00000536813.6:c.542G>A | ENSP00000438726.2:p.Trp181Ter | |
| ENST00000546302.6:c.515G>A | ENSP00000445599.1:p.Trp172Ter | |
| ENST00000640813.1:c.448-354G>A | ENSP00000491061.1:n.448-354G>A | |
| ENST00000648026.1:c.493-354G>A | ENSP00000498044.1:n.493-354G>A | |
| ENST00000648374.1:c.542G>A | ENSP00000497255.1:p.Trp181Ter | |
| ENST00000648488.1:c.*85+251G>A | ENSP00000498079.1:n.*85+251G>A | |
| ENST00000649823.1:n.810G>A | ||
| ENST00000649868.1:c.*207-354G>A | ENSP00000497548.1:n.*207-354G>A | |
| ENST00000650101.1:c.524G>A | ENSP00000496970.1:p.Trp175Ter | |
| ENST00000650307.1:n.1419G>A | ||
| ENST00000652429.1:c.593G>A MANE Select | ENSP00000498786.1:p.Trp198Ter | |
| ENST00000278715.7:c.593G>A | ENSP00000278715.3:p.Trp198Ter | |
| ENST00000392841.1:c.542G>A | ENSP00000376584.1:p.Trp181Ter | |
| ENST00000442944.6:c.542G>A | ENSP00000392041.2:p.Trp181Ter | |
| ENST00000534956.1:n.415-354G>A | ||
| ENST00000535253.5:c.542G>A | ENSP00000442079.1:p.Trp181Ter | |
| ENST00000535793.5:c.*488G>A | ENSP00000439904.1:n.*488G>A | |
| ENST00000537841.5:c.542G>A | ENSP00000444730.1:p.Trp181Ter | |
| ENST00000539986.5:c.542G>A | ENSP00000440092.1:p.Trp181Ter | |
| ENST00000542044.5:n.1038G>A | ||
| ENST00000542345.5:n.731G>A | ||
| ENST00000542729.5:c.542G>A | ENSP00000443058.1:p.Trp181Ter | |
| ENST00000542822.5:c.*529G>A | ENSP00000444817.1:n.*529G>A | |
| ENST00000543090.5:c.539G>A | ENSP00000445429.1:p.Trp180Ter | |
| ENST00000543543.5:n.828G>A | ||
| ENST00000544360.5:n.561G>A | ||
| ENST00000544387.5:c.593G>A | ENSP00000438424.1:p.Trp198Ter | |
| ENST00000545621.5:c.*488G>A | ENSP00000444849.1:n.*488G>A | |
| ENST00000546226.5:n.881G>A | ||
| ENST00000546302.5:c.515G>A | ENSP00000445599.1:p.Trp172Ter | |
| NM_000190.3:c.593G>A | NP_000181.2:p.Trp198Ter | |
| NM_001024382.1:c.542G>A | NP_001019553.1:p.Trp181Ter | |
| NM_001258208.1:c.593G>A | NP_001245137.1:p.Trp198Ter | |
| NM_001258209.1:c.542G>A | NP_001245138.1:p.Trp181Ter | |
| XM_005271531.1:c.542G>A | XP_005271588.1:p.Trp181Ter | |
| XM_005271532.1:c.542G>A | XP_005271589.1:p.Trp181Ter | |
| XM_005271533.2:c.539G>A | XP_005271590.1:p.Trp180Ter | |
| XM_011542796.1:c.428G>A | XP_011541098.1:p.Trp143Ter | |
| NM_000190.4:c.593G>A MANE Select | NP_000181.2:p.Trp198Ter | |
| NM_001024382.2:c.542G>A | NP_001019553.1:p.Trp181Ter | |
| XM_005271533.3:c.539G>A | XP_005271590.1:p.Trp180Ter | |
| XM_017017629.1:c.542G>A | XP_016873118.1:p.Trp181Ter | |
| XM_024448460.1:c.539G>A | XP_024304228.1:p.Trp180Ter | |
| NM_001258208.2:c.593G>A | NP_001245137.1:p.Trp198Ter | |
| NM_001258209.2:c.542G>A | NP_001245138.1:p.Trp181Ter |