Linked Data
ClinVar Variation Id:
302724
dbSNP Id:
rs201349602
ExAC:
11:118955716 A / C
gnomAD v2:
11-118955716-A-C
gnomAD v3:
11-119085006-A-C
gnomAD v4:
11-119085006-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119085006A>C , CM000673.2:g.119085006A>C | GRCh38 |
| NC_000011.9:g.118955716A>C , CM000673.1:g.118955716A>C | GRCh37 |
| NC_000011.8:g.118460926A>C | NCBI36 |
| NG_008093.1:g.5130A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442944.7:c.-28A>C | ENSP00000392041.3:n.-28A>C | |
| ENST00000536813.6:c.-162A>C | ENSP00000438726.2:n.-162A>C | |
| ENST00000546302.6:c.-28A>C | ENSP00000445599.1:n.-28A>C | |
| ENST00000640813.1:c.-79A>C | ENSP00000491061.1:n.-79A>C | |
| ENST00000649868.1:c.-28A>C | ENSP00000497548.1:n.-28A>C | |
| ENST00000652429.1:c.-28A>C MANE Select | ENSP00000498786.1:n.-28A>C | |
| ENST00000278715.7:c.-28A>C | ENSP00000278715.3:n.-28A>C | |
| ENST00000442944.6:c.-162A>C | ENSP00000392041.2:n.-162A>C | |
| ENST00000535793.5:c.-28A>C | ENSP00000439904.1:n.-28A>C | |
| ENST00000536185.5:n.141A>C | ||
| ENST00000536813.5:c.-28A>C | ENSP00000438726.1:n.-28A>C | |
| ENST00000537841.5:c.-170A>C | ENSP00000444730.1:n.-170A>C | |
| ENST00000542044.5:n.98A>C | ||
| ENST00000542729.5:c.-170A>C | ENSP00000443058.1:n.-170A>C | |
| ENST00000542822.5:c.-28A>C | ENSP00000444817.1:n.-28A>C | |
| ENST00000543090.5:c.-28A>C | ENSP00000445429.1:n.-28A>C | |
| ENST00000543821.5:n.119A>C | ||
| ENST00000544387.5:c.-28A>C | ENSP00000438424.1:n.-28A>C | |
| ENST00000545621.5:c.-28A>C | ENSP00000444849.1:n.-28A>C | |
| ENST00000545901.5:n.126A>C | ||
| ENST00000546302.5:c.-28A>C | ENSP00000445599.1:n.-28A>C | |
| NM_000190.3:c.-28A>C | NP_000181.2:n.-28A>C | |
| NM_001258208.1:c.-28A>C | NP_001245137.1:n.-28A>C | |
| NM_001258209.1:c.-170A>C | NP_001245138.1:n.-170A>C | |
| XM_005271531.1:c.-170A>C | XP_005271588.1:n.-170A>C | |
| XM_005271532.1:c.-146A>C | XP_005271589.1:n.-146A>C | |
| XM_005271533.2:c.-28A>C | XP_005271590.1:n.-28A>C | |
| NM_000190.4:c.-28A>C MANE Select | NP_000181.2:n.-28A>C | |
| XM_005271533.3:c.-28A>C | XP_005271590.1:n.-28A>C | |
| XM_024448460.1:c.-28A>C | XP_024304228.1:n.-28A>C | |
| NM_001258208.2:c.-28A>C | NP_001245137.1:n.-28A>C | |
| NM_001258209.2:c.-170A>C | NP_001245138.1:n.-170A>C |