Linked Data
ClinVar Variation Id:
56191
ClinVar RCV Id:
RCV000049602
dbSNP Id:
rs386833643
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40091402A>C , CM000663.2:g.40091402A>C | GRCh38 |
| NC_000001.10:g.40557074A>C , CM000663.1:g.40557074A>C | GRCh37 |
| NC_000001.9:g.40329661A>C | NCBI36 |
| NG_009192.1:g.11069T>G , LRG_690:g.11069T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*199-3T>G | ENSP00000361865.5:n.*199-3T>G | |
| ENST00000433473.8:c.360-3T>G | ENSP00000394863.4:n.360-3T>G | |
| ENST00000439754.6:c.363-3T>G | ENSP00000403207.2:n.363-3T>G | |
| ENST00000449045.7:c.125-1890T>G | ENSP00000392293.2:n.125-1890T>G | |
| ENST00000526547.2:c.643-3T>G | ||
| ENST00000527311.7:c.235-3T>G | ENSP00000436695.3:n.235-3T>G | |
| ENST00000530704.6:c.363-3T>G | ENSP00000431655.1:n.363-3T>G | |
| ENST00000641083.1:c.341-3T>G | ||
| ENST00000641236.1:n.600-3T>G | ||
| ENST00000641319.1:c.363-3T>G | ENSP00000493128.1:n.363-3T>G | |
| ENST00000641471.1:c.450-3T>G | ENSP00000493146.1:n.450-3T>G | |
| ENST00000641548.1:c.*215-3T>G | ENSP00000492984.1:n.*215-3T>G | |
| ENST00000641691.1:c.*215-3T>G | ENSP00000492910.1:n.*215-3T>G | |
| ENST00000641924.1:c.124+5713T>G | ENSP00000493063.1:n.124+5713T>G | |
| ENST00000642050.2:c.363-3T>G MANE Select | ENSP00000493153.1:n.363-3T>G | |
| ENST00000372779.8:c.450-3T>G | ENSP00000361865.4:n.450-3T>G | |
| ENST00000433473.7:c.363-3T>G | ENSP00000394863.3:n.363-3T>G | |
| ENST00000439754.5:c.48-3T>G | ENSP00000403207.1:n.48-3T>G | |
| ENST00000449045.6:c.125-1890T>G | ENSP00000392293.2:n.125-1890T>G | |
| ENST00000526547.1:c.213-3T>G | ENSP00000436481.1:n.213-3T>G | |
| ENST00000527311.6:c.138-3T>G | ENSP00000436695.2:n.138-3T>G | |
| ENST00000529905.5:c.363-3T>G | ENSP00000432053.1:n.363-3T>G | |
| ENST00000530704.5:c.363-3T>G | ENSP00000431655.1:n.363-3T>G | |
| NM_000310.3:c.363-3T>G , LRG_690t1:c.363-3T>G | NP_000301.1:n.363-3T>G | |
| NM_001142604.1:c.125-1890T>G | NP_001136076.1:n.125-1890T>G | |
| XM_005271008.1:c.363-3T>G | XP_005271065.1:n.363-3T>G | |
| NM_001363695.1:c.363-3T>G | NP_001350624.1:n.363-3T>G | |
| NM_000310.4:c.363-3T>G MANE Select | NP_000301.1:n.363-3T>G | |
| NM_001142604.2:c.125-1890T>G | NP_001136076.1:n.125-1890T>G | |
| NM_001363695.2:c.363-3T>G | NP_001350624.1:n.363-3T>G |