Linked Data
ClinVar Variation Id:
225355
dbSNP Id:
rs762128147
ExAC:
15:89803942 A / G
gnomAD v2:
15-89803942-A-G
gnomAD v3:
15-89260711-A-G
gnomAD v4:
15-89260711-A-G
PubMed:
PMID:17452773
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89260711A>G , CM000677.2:g.89260711A>G | GRCh38 |
| NC_000015.9:g.89803942A>G , CM000677.1:g.89803942A>G | GRCh37 |
| NC_000015.8:g.87604946A>G | NCBI36 |
| NG_011736.1:g.21749A>G , LRG_500:g.21749A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696717.1:c.-122-2A>G | ENSP00000512830.1:n.-122-2A>G | |
| ENST00000696718.1:c.-249-874A>G | ENSP00000512831.1:n.-249-874A>G | |
| ENST00000696719.1:c.158-2A>G | ENSP00000512832.1:n.158-2A>G | |
| ENST00000696720.1:n.338-2A>G | ||
| ENST00000310775.12:c.158-2A>G MANE Select | ENSP00000310842.8:n.158-2A>G | |
| ENST00000674831.1:c.158-2A>G | ENSP00000502474.1:n.158-2A>G | |
| ENST00000676003.1:c.158-2A>G | ENSP00000502254.1:n.158-2A>G | |
| ENST00000300027.12:c.158-2A>G | ENSP00000300027.8:n.158-2A>G | |
| ENST00000310775.11:c.158-2A>G | ENSP00000310842.7:n.158-2A>G | |
| ENST00000447611.6:c.158-2A>G | ENSP00000413249.2:n.158-2A>G | |
| ENST00000563250.5:c.158-2A>G | ENSP00000457029.1:n.158-2A>G | |
| ENST00000564920.5:c.158-2A>G | ENSP00000456552.1:n.158-2A>G | |
| ENST00000565255.5:c.158-2A>G | ENSP00000454371.1:n.158-2A>G | |
| ENST00000565522.5:n.129+12985A>G | ||
| ENST00000567891.5:c.158-2A>G | ENSP00000455735.1:n.158-2A>G | |
| ENST00000567996.5:c.158-2A>G | ENSP00000458024.1:n.158-2A>G | |
| ENST00000568670.5:n.233-2A>G | ||
| NM_001113378.1:c.158-2A>G , LRG_500t1:c.158-2A>G | NP_001106849.1:n.158-2A>G | |
| NM_018193.2:c.158-2A>G | NP_060663.2:n.158-2A>G | |
| XM_011521756.1:c.158-2A>G | XP_011520058.1:n.158-2A>G | |
| XM_011521757.1:c.158-2A>G | XP_011520059.1:n.158-2A>G | |
| XM_011521758.1:c.158-2A>G | XP_011520060.1:n.158-2A>G | |
| XM_011521759.1:c.158-2A>G | XP_011520061.1:n.158-2A>G | |
| XM_011521760.1:c.158-2A>G | XP_011520062.1:n.158-2A>G | |
| XM_011521761.1:c.158-2A>G | XP_011520063.1:n.158-2A>G | |
| XM_011521762.1:c.158-2A>G | XP_011520064.1:n.158-2A>G | |
| XM_011521763.1:c.158-2A>G | XP_011520065.1:n.158-2A>G | |
| XM_011521764.1:c.158-2A>G | XP_011520066.1:n.158-2A>G | |
| XM_011521765.1:c.-122-2A>G | XP_011520067.1:n.-122-2A>G | |
| XM_011521766.1:c.-122-2A>G | XP_011520068.1:n.-122-2A>G | |
| XM_011521767.1:c.-122-2A>G | XP_011520069.1:n.-122-2A>G | |
| XM_011521768.1:c.158-2A>G | XP_011520070.1:n.158-2A>G | |
| XM_011521769.1:c.158-2A>G | XP_011520071.1:n.158-2A>G | |
| XM_011521756.2:c.158-2A>G | XP_011520058.1:n.158-2A>G | |
| XM_011521757.2:c.158-2A>G | XP_011520059.1:n.158-2A>G | |
| XM_011521764.2:c.158-2A>G | XP_011520066.1:n.158-2A>G | |
| XM_011521767.2:c.-122-2A>G | XP_011520069.1:n.-122-2A>G | |
| NM_001113378.2:c.158-2A>G MANE Select | NP_001106849.1:n.158-2A>G | |
| NM_001376910.1:c.-122-2A>G | NP_001363839.1:n.-122-2A>G | |
| NM_001376911.1:c.158-2A>G | NP_001363840.1:n.158-2A>G | |
| NM_018193.3:c.158-2A>G | NP_060663.2:n.158-2A>G |