Linked Data
ClinVar Variation Id:
510995
dbSNP Id:
rs148084355
ExAC:
11:118955769 C / A
gnomAD v2:
11-118955769-C-A
gnomAD v3:
11-119085059-C-A
gnomAD v4:
11-119085059-C-A
COSMIC:
COSM4884032
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119085059C>A , CM000673.2:g.119085059C>A | GRCh38 |
| NC_000011.9:g.118955769C>A , CM000673.1:g.118955769C>A | GRCh37 |
| NC_000011.8:g.118460979C>A | NCBI36 |
| NG_008093.1:g.5183C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442944.7:c.26C>A | ENSP00000392041.3:p.Ala9Glu | |
| ENST00000534956.2:n.29C>A | ||
| ENST00000536813.6:c.-109C>A | ENSP00000438726.2:n.-109C>A | |
| ENST00000546302.6:c.26C>A | ENSP00000445599.1:p.Ala9Glu | |
| ENST00000640813.1:c.-26C>A | ENSP00000491061.1:n.-26C>A | |
| ENST00000648026.1:c.20C>A | ENSP00000498044.1:p.Ala7Glu | |
| ENST00000649868.1:c.26C>A | ENSP00000497548.1:p.Ala9Glu | |
| ENST00000652429.1:c.26C>A MANE Select | ENSP00000498786.1:p.Ala9Glu | |
| ENST00000278715.7:c.26C>A | ENSP00000278715.3:p.Ala9Glu | |
| ENST00000442944.6:c.-109C>A | ENSP00000392041.2:n.-109C>A | |
| ENST00000535793.5:c.26C>A | ENSP00000439904.1:p.Ala9Glu | |
| ENST00000536185.5:n.194C>A | ||
| ENST00000536813.5:c.26C>A | ENSP00000438726.1:p.Ala9Glu | |
| ENST00000537841.5:c.-117C>A | ENSP00000444730.1:n.-117C>A | |
| ENST00000542044.5:n.151C>A | ||
| ENST00000542729.5:c.-117C>A | ENSP00000443058.1:n.-117C>A | |
| ENST00000542822.5:c.26C>A | ENSP00000444817.1:p.Ala9Glu | |
| ENST00000543090.5:c.26C>A | ENSP00000445429.1:p.Ala9Glu | |
| ENST00000543821.5:n.172C>A | ||
| ENST00000544387.5:c.26C>A | ENSP00000438424.1:p.Ala9Glu | |
| ENST00000545621.5:c.26C>A | ENSP00000444849.1:p.Ala9Glu | |
| ENST00000545901.5:n.179C>A | ||
| ENST00000546302.5:c.26C>A | ENSP00000445599.1:p.Ala9Glu | |
| NM_000190.3:c.26C>A | NP_000181.2:p.Ala9Glu | |
| NM_001258208.1:c.26C>A | NP_001245137.1:p.Ala9Glu | |
| NM_001258209.1:c.-117C>A | NP_001245138.1:n.-117C>A | |
| XM_005271531.1:c.-117C>A | XP_005271588.1:n.-117C>A | |
| XM_005271532.1:c.-93C>A | XP_005271589.1:n.-93C>A | |
| XM_005271533.2:c.26C>A | XP_005271590.1:p.Ala9Glu | |
| NM_000190.4:c.26C>A MANE Select | NP_000181.2:p.Ala9Glu | |
| XM_005271533.3:c.26C>A | XP_005271590.1:p.Ala9Glu | |
| XM_024448460.1:c.26C>A | XP_024304228.1:p.Ala9Glu | |
| NM_001258208.2:c.26C>A | NP_001245137.1:p.Ala9Glu | |
| NM_001258209.2:c.-117C>A | NP_001245138.1:n.-117C>A |