Linked Data
ClinVar Variation Id:
56213
dbSNP Id:
rs386833664
ExAC:
1:40542587 T / A
gnomAD v2:
1-40542587-T-A
gnomAD v4:
1-40076915-T-A
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40076915T>A , CM000663.2:g.40076915T>A | GRCh38 |
| NC_000001.10:g.40542587T>A , CM000663.1:g.40542587T>A | GRCh37 |
| NC_000001.9:g.40315174T>A | NCBI36 |
| NG_009192.1:g.25556A>T , LRG_690:g.25556A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.724-2A>T | ENSP00000394863.4:n.724-2A>T | |
| ENST00000439754.6:c.726+1645A>T | ENSP00000403207.2:n.726+1645A>T | |
| ENST00000449045.7:c.418-2A>T | ENSP00000392293.2:n.418-2A>T | |
| ENST00000527311.7:c.496-2A>T | ENSP00000436695.3:n.496-2A>T | |
| ENST00000530076.6:c.70-2A>T | ENSP00000434007.1:n.70-2A>T | |
| ENST00000530704.6:c.*350-2A>T | ENSP00000431655.1:n.*350-2A>T | |
| ENST00000641083.1:c.705-2A>T | ||
| ENST00000641236.1:n.964-2A>T | ||
| ENST00000641319.1:c.727-2A>T | ENSP00000493128.1:n.727-2A>T | |
| ENST00000641381.1:c.149-2A>T | ||
| ENST00000641471.1:c.814-2A>T | ENSP00000493146.1:n.814-2A>T | |
| ENST00000641691.1:c.*579-2A>T | ENSP00000492910.1:n.*579-2A>T | |
| ENST00000641924.1:c.*156-2A>T | ENSP00000493063.1:n.*156-2A>T | |
| ENST00000642050.2:c.727-2A>T MANE Select | ENSP00000493153.1:n.727-2A>T | |
| ENST00000372775.2:n.124-2A>T | ||
| ENST00000433473.7:c.727-2A>T | ENSP00000394863.3:n.727-2A>T | |
| ENST00000439754.5:c.411+1645A>T | ENSP00000403207.1:n.411+1645A>T | |
| ENST00000449045.6:c.418-2A>T | ENSP00000392293.2:n.418-2A>T | |
| ENST00000527311.6:c.502-2A>T | ENSP00000436695.2:n.502-2A>T | |
| ENST00000529905.5:c.727-2A>T | ENSP00000432053.1:n.727-2A>T | |
| ENST00000530076.5:c.70-2A>T | ENSP00000434007.1:n.70-2A>T | |
| ENST00000530704.5:c.*350-2A>T | ENSP00000431655.1:n.*350-2A>T | |
| NM_000310.3:c.727-2A>T , LRG_690t1:c.727-2A>T | NP_000301.1:n.727-2A>T | |
| NM_001142604.1:c.418-2A>T | NP_001136076.1:n.418-2A>T | |
| XM_005271008.1:c.726+1645A>T | XP_005271065.1:n.726+1645A>T | |
| NM_001363695.1:c.726+1645A>T | NP_001350624.1:n.726+1645A>T | |
| NM_000310.4:c.727-2A>T MANE Select | NP_000301.1:n.727-2A>T | |
| NM_001142604.2:c.418-2A>T | NP_001136076.1:n.418-2A>T | |
| NM_001363695.2:c.726+1645A>T | NP_001350624.1:n.726+1645A>T |