Linked Data
ClinVar Variation Id:
1170053
ClinVar RCV Id:
RCV001522042
dbSNP Id:
rs28990987
ExAC:
11:118962804 A / G
gnomAD v2:
11-118962804-A-G
gnomAD v3:
11-119092094-A-G
gnomAD v4:
11-119092094-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092094A>G , CM000673.2:g.119092094A>G | GRCh38 |
| NC_000011.9:g.118962804A>G , CM000673.1:g.118962804A>G | GRCh37 |
| NC_000011.8:g.118468014A>G | NCBI36 |
| NG_008093.1:g.12218A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.448-31A>G | ENSP00000509288.1:n.448-31A>G | |
| ENST00000691144.1:n.2354-31A>G | ||
| ENST00000691249.1:n.1197-31A>G | ||
| ENST00000442944.7:c.595-31A>G | ENSP00000392041.3:n.595-31A>G | |
| ENST00000536813.6:c.562-31A>G | ENSP00000438726.2:n.562-31A>G | |
| ENST00000546302.6:c.535-31A>G | ENSP00000445599.1:n.535-31A>G | |
| ENST00000640813.1:c.461+220A>G | ENSP00000491061.1:n.461+220A>G | |
| ENST00000648026.1:c.507-31A>G | ENSP00000498044.1:n.507-31A>G | |
| ENST00000648374.1:c.562-31A>G | ENSP00000497255.1:n.562-31A>G | |
| ENST00000648488.1:c.*86-31A>G | ENSP00000498079.1:n.*86-31A>G | |
| ENST00000649823.1:n.830-31A>G | ||
| ENST00000650101.1:c.544-31A>G | ENSP00000496970.1:n.544-31A>G | |
| ENST00000650307.1:n.1439-31A>G | ||
| ENST00000652429.1:c.613-31A>G MANE Select | ENSP00000498786.1:n.613-31A>G | |
| ENST00000278715.7:c.613-31A>G | ENSP00000278715.3:n.613-31A>G | |
| ENST00000392841.1:c.562-31A>G | ENSP00000376584.1:n.562-31A>G | |
| ENST00000442944.6:c.562-31A>G | ENSP00000392041.2:n.562-31A>G | |
| ENST00000537841.5:c.562-31A>G | ENSP00000444730.1:n.562-31A>G | |
| ENST00000542044.5:n.1058-31A>G | ||
| ENST00000542345.5:n.751-31A>G | ||
| ENST00000542729.5:c.562-31A>G | ENSP00000443058.1:n.562-31A>G | |
| ENST00000543090.5:c.559-310A>G | ENSP00000445429.1:n.559-310A>G | |
| ENST00000543543.5:n.848-31A>G | ||
| ENST00000544182.1:n.557A>G | ||
| ENST00000544387.5:c.613-31A>G | ENSP00000438424.1:n.613-31A>G | |
| ENST00000545621.5:c.*508-31A>G | ENSP00000444849.1:n.*508-31A>G | |
| ENST00000546226.5:n.901-31A>G | ||
| ENST00000546302.5:c.535-31A>G | ENSP00000445599.1:n.535-31A>G | |
| NM_000190.3:c.613-31A>G | NP_000181.2:n.613-31A>G | |
| NM_001024382.1:c.562-31A>G | NP_001019553.1:n.562-31A>G | |
| NM_001258208.1:c.613-31A>G | NP_001245137.1:n.613-31A>G | |
| NM_001258209.1:c.562-31A>G | NP_001245138.1:n.562-31A>G | |
| XM_005271531.1:c.562-31A>G | XP_005271588.1:n.562-31A>G | |
| XM_005271532.1:c.562-31A>G | XP_005271589.1:n.562-31A>G | |
| XM_005271533.2:c.559-31A>G | XP_005271590.1:n.559-31A>G | |
| XM_011542796.1:c.448-31A>G | XP_011541098.1:n.448-31A>G | |
| NM_000190.4:c.613-31A>G MANE Select | NP_000181.2:n.613-31A>G | |
| NM_001024382.2:c.562-31A>G | NP_001019553.1:n.562-31A>G | |
| XM_005271533.3:c.559-31A>G | XP_005271590.1:n.559-31A>G | |
| XM_017017629.1:c.562-31A>G | XP_016873118.1:n.562-31A>G | |
| XM_024448460.1:c.559-31A>G | XP_024304228.1:n.559-31A>G | |
| NM_001258208.2:c.613-31A>G | NP_001245137.1:n.613-31A>G | |
| NM_001258209.2:c.562-31A>G | NP_001245138.1:n.562-31A>G |