Linked Data
ClinVar Variation Id:
252427
dbSNP Id:
rs879255312
gnomAD v2:
13-32889803-G-A
gnomAD v3:
13-32315666-G-A
gnomAD v4:
13-32315666-G-A
PubMed:
PMID:26295337
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32315666G>A , CM000675.2:g.32315666G>A | GRCh38 |
| NC_000013.10:g.32889803G>A , CM000675.1:g.32889803G>A | GRCh37 |
| NC_000013.9:g.31787803G>A | NCBI36 |
| NG_012772.3:g.5187G>A , LRG_293:g.5187G>A | |
| NG_017006.1:g.1289C>T | |
| NG_017006.2:g.4698C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.-41G>A | ENSP00000434898.2:n.-41G>A | |
| ENST00000528762.2:c.-41G>A | ENSP00000433168.2:n.-41G>A | |
| ENST00000530893.7:c.-406G>A | ENSP00000499438.2:n.-406G>A | |
| ENST00000665585.2:c.-41G>A | ENSP00000499570.2:n.-41G>A | |
| ENST00000666593.2:c.-41G>A | ENSP00000499256.2:n.-41G>A | |
| ENST00000700202.2:c.-41G>A | ENSP00000514856.2:n.-41G>A | |
| ENST00000700199.1:n.84G>A | ||
| ENST00000700200.1:n.84G>A | ||
| ENST00000700201.1:c.-41G>A | ENSP00000514855.1:n.-41G>A | |
| ENST00000380152.8:c.-41G>A MANE Select | ENSP00000369497.3:n.-41G>A | |
| ENST00000544455.6:c.-40+521G>A | ENSP00000439902.1:n.-40+521G>A | |
| ENST00000380152.7:c.-41G>A | ENSP00000369497.3:n.-41G>A | |
| ENST00000530893.6:n.162G>A | ||
| ENST00000544455.5:c.-41G>A | ENSP00000439902.1:n.-41G>A | |
| NM_000059.3:c.-41G>A , LRG_293t1:c.-41G>A | NP_000050.2:n.-41G>A | |
| XM_011535203.1:c.-40+521G>A | XP_011533505.1:n.-40+521G>A | |
| XM_011535204.1:c.-41G>A | XP_011533506.1:n.-41G>A | |
| XM_011535205.1:c.-41G>A | XP_011533507.1:n.-41G>A | |
| NM_000059.4:c.-41G>A MANE Select | NP_000050.3:n.-41G>A |