Linked Data
dbSNP Id:
rs975950870
gnomAD v2:
11-118962375-A-G
gnomAD v3:
11-119091665-A-G
gnomAD v4:
11-119091665-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119091665A>G , CM000673.2:g.119091665A>G | GRCh38 |
| NC_000011.9:g.118962375A>G , CM000673.1:g.118962375A>G | GRCh37 |
| NC_000011.8:g.118467585A>G | NCBI36 |
| NG_008093.1:g.11789A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.447+139A>G | ENSP00000509288.1:n.447+139A>G | |
| ENST00000686690.1:n.1601A>G | ||
| ENST00000691144.1:n.2353+139A>G | ||
| ENST00000691249.1:n.1196+139A>G | ||
| ENST00000442944.7:c.594+139A>G | ENSP00000392041.3:n.594+139A>G | |
| ENST00000534956.2:n.448-196A>G | ||
| ENST00000536813.6:c.561+139A>G | ENSP00000438726.2:n.561+139A>G | |
| ENST00000546302.6:c.534+139A>G | ENSP00000445599.1:n.534+139A>G | |
| ENST00000640813.1:c.448-196A>G | ENSP00000491061.1:n.448-196A>G | |
| ENST00000648026.1:c.493-196A>G | ENSP00000498044.1:n.493-196A>G | |
| ENST00000648374.1:c.561+139A>G | ENSP00000497255.1:n.561+139A>G | |
| ENST00000648488.1:c.*85+409A>G | ENSP00000498079.1:n.*85+409A>G | |
| ENST00000649823.1:n.829+139A>G | ||
| ENST00000649868.1:c.*207-196A>G | ENSP00000497548.1:n.*207-196A>G | |
| ENST00000650101.1:c.543+139A>G | ENSP00000496970.1:n.543+139A>G | |
| ENST00000650307.1:n.1438+139A>G | ||
| ENST00000652429.1:c.612+139A>G MANE Select | ENSP00000498786.1:n.612+139A>G | |
| ENST00000278715.7:c.612+139A>G | ENSP00000278715.3:n.612+139A>G | |
| ENST00000392841.1:c.561+139A>G | ENSP00000376584.1:n.561+139A>G | |
| ENST00000442944.6:c.561+139A>G | ENSP00000392041.2:n.561+139A>G | |
| ENST00000534956.1:n.415-196A>G | ||
| ENST00000537841.5:c.561+139A>G | ENSP00000444730.1:n.561+139A>G | |
| ENST00000542044.5:n.1057+139A>G | ||
| ENST00000542345.5:n.750+139A>G | ||
| ENST00000542729.5:c.561+139A>G | ENSP00000443058.1:n.561+139A>G | |
| ENST00000543090.5:c.558+139A>G | ENSP00000445429.1:n.558+139A>G | |
| ENST00000543543.5:n.847+139A>G | ||
| ENST00000544182.1:n.128A>G | ||
| ENST00000544387.5:c.612+139A>G | ENSP00000438424.1:n.612+139A>G | |
| ENST00000545621.5:c.*507+139A>G | ENSP00000444849.1:n.*507+139A>G | |
| ENST00000546226.5:n.900+139A>G | ||
| ENST00000546302.5:c.534+139A>G | ENSP00000445599.1:n.534+139A>G | |
| NM_000190.3:c.612+139A>G | NP_000181.2:n.612+139A>G | |
| NM_001024382.1:c.561+139A>G | NP_001019553.1:n.561+139A>G | |
| NM_001258208.1:c.612+139A>G | NP_001245137.1:n.612+139A>G | |
| NM_001258209.1:c.561+139A>G | NP_001245138.1:n.561+139A>G | |
| XM_005271531.1:c.561+139A>G | XP_005271588.1:n.561+139A>G | |
| XM_005271532.1:c.561+139A>G | XP_005271589.1:n.561+139A>G | |
| XM_005271533.2:c.558+139A>G | XP_005271590.1:n.558+139A>G | |
| XM_011542796.1:c.447+139A>G | XP_011541098.1:n.447+139A>G | |
| NM_000190.4:c.612+139A>G MANE Select | NP_000181.2:n.612+139A>G | |
| NM_001024382.2:c.561+139A>G | NP_001019553.1:n.561+139A>G | |
| XM_005271533.3:c.558+139A>G | XP_005271590.1:n.558+139A>G | |
| XM_017017629.1:c.561+139A>G | XP_016873118.1:n.561+139A>G | |
| XM_024448460.1:c.558+139A>G | XP_024304228.1:n.558+139A>G | |
| NM_001258208.2:c.612+139A>G | NP_001245137.1:n.612+139A>G | |
| NM_001258209.2:c.561+139A>G | NP_001245138.1:n.561+139A>G |