Linked Data
ClinVar Variation Id:
1657993
ClinVar RCV Id:
RCV002171711
dbSNP Id:
rs199862927
ExAC:
11:118955796 C / G
gnomAD v2:
11-118955796-C-G
gnomAD v3:
11-119085086-C-G
gnomAD v4:
11-119085086-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119085086C>G , CM000673.2:g.119085086C>G | GRCh38 |
| NC_000011.9:g.118955796C>G , CM000673.1:g.118955796C>G | GRCh37 |
| NC_000011.8:g.118461006C>G | NCBI36 |
| NG_008093.1:g.5210C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442944.7:c.33+20C>G | ENSP00000392041.3:n.33+20C>G | |
| ENST00000534956.2:n.36+20C>G | ||
| ENST00000536813.6:c.-102+20C>G | ENSP00000438726.2:n.-102+20C>G | |
| ENST00000546302.6:c.33+20C>G | ENSP00000445599.1:n.33+20C>G | |
| ENST00000640813.1:c.-19+20C>G | ENSP00000491061.1:n.-19+20C>G | |
| ENST00000648026.1:c.27+20C>G | ENSP00000498044.1:n.27+20C>G | |
| ENST00000649868.1:c.33+20C>G | ENSP00000497548.1:n.33+20C>G | |
| ENST00000652429.1:c.33+20C>G MANE Select | ENSP00000498786.1:n.33+20C>G | |
| ENST00000278715.7:c.33+20C>G | ENSP00000278715.3:n.33+20C>G | |
| ENST00000442944.6:c.-102+20C>G | ENSP00000392041.2:n.-102+20C>G | |
| ENST00000535793.5:c.33+20C>G | ENSP00000439904.1:n.33+20C>G | |
| ENST00000536185.5:n.201+20C>G | ||
| ENST00000536813.5:c.33+20C>G | ENSP00000438726.1:n.33+20C>G | |
| ENST00000537841.5:c.-90C>G | ENSP00000444730.1:n.-90C>G | |
| ENST00000542044.5:n.158+20C>G | ||
| ENST00000542729.5:c.-90C>G | ENSP00000443058.1:n.-90C>G | |
| ENST00000542822.5:c.53C>G | ENSP00000444817.1:p.Thr18Ser | |
| ENST00000543090.5:c.33+20C>G | ENSP00000445429.1:n.33+20C>G | |
| ENST00000543821.5:n.179+20C>G | ||
| ENST00000544387.5:c.33+20C>G | ENSP00000438424.1:n.33+20C>G | |
| ENST00000545621.5:c.33+20C>G | ENSP00000444849.1:n.33+20C>G | |
| ENST00000545901.5:n.186+20C>G | ||
| ENST00000546302.5:c.33+20C>G | ENSP00000445599.1:n.33+20C>G | |
| NM_000190.3:c.33+20C>G | NP_000181.2:n.33+20C>G | |
| NM_001258208.1:c.33+20C>G | NP_001245137.1:n.33+20C>G | |
| NM_001258209.1:c.-90C>G | NP_001245138.1:n.-90C>G | |
| XM_005271531.1:c.-90C>G | XP_005271588.1:n.-90C>G | |
| XM_005271532.1:c.-66C>G | XP_005271589.1:n.-66C>G | |
| XM_005271533.2:c.33+20C>G | XP_005271590.1:n.33+20C>G | |
| NM_000190.4:c.33+20C>G MANE Select | NP_000181.2:n.33+20C>G | |
| XM_005271533.3:c.33+20C>G | XP_005271590.1:n.33+20C>G | |
| XM_024448460.1:c.33+20C>G | XP_024304228.1:n.33+20C>G | |
| NM_001258208.2:c.33+20C>G | NP_001245137.1:n.33+20C>G | |
| NM_001258209.2:c.-90C>G | NP_001245138.1:n.-90C>G |