Linked Data
ClinVar Variation Id:
56200
ClinVar RCV Id:
RCV000049611
dbSNP Id:
rs386833652
ExAC:
1:40555080 A / G
gnomAD v2:
1-40555080-A-G
gnomAD v4:
1-40089408-A-G
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40089408A>G , CM000663.2:g.40089408A>G | GRCh38 |
| NC_000001.10:g.40555080A>G , CM000663.1:g.40555080A>G | GRCh37 |
| NC_000001.9:g.40327667A>G | NCBI36 |
| NG_009192.1:g.13063T>C , LRG_690:g.13063T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*372+2T>C | ENSP00000361865.5:n.*372+2T>C | |
| ENST00000433473.8:c.533+2T>C | ENSP00000394863.4:n.533+2T>C | |
| ENST00000439754.6:c.536+2T>C | ENSP00000403207.2:n.536+2T>C | |
| ENST00000449045.7:c.227+2T>C | ENSP00000392293.2:n.227+2T>C | |
| ENST00000527311.7:c.305+1921T>C | ENSP00000436695.3:n.305+1921T>C | |
| ENST00000530704.6:c.*159+2T>C | ENSP00000431655.1:n.*159+2T>C | |
| ENST00000641083.1:c.514+2T>C | ||
| ENST00000641236.1:n.773+2T>C | ||
| ENST00000641319.1:c.536+2T>C | ENSP00000493128.1:n.536+2T>C | |
| ENST00000641381.1:c.148+2T>C | ||
| ENST00000641471.1:c.623+2T>C | ENSP00000493146.1:n.623+2T>C | |
| ENST00000641691.1:c.*388+2T>C | ENSP00000492910.1:n.*388+2T>C | |
| ENST00000641924.1:c.124+7707T>C | ENSP00000493063.1:n.124+7707T>C | |
| ENST00000642050.2:c.536+2T>C MANE Select | ENSP00000493153.1:n.536+2T>C | |
| ENST00000372779.8:c.623+2T>C | ENSP00000361865.4:n.623+2T>C | |
| ENST00000433473.7:c.536+2T>C | ENSP00000394863.3:n.536+2T>C | |
| ENST00000439754.5:c.221+2T>C | ENSP00000403207.1:n.221+2T>C | |
| ENST00000449045.6:c.227+2T>C | ENSP00000392293.2:n.227+2T>C | |
| ENST00000527311.6:c.311+2T>C | ENSP00000436695.2:n.311+2T>C | |
| ENST00000529905.5:c.536+2T>C | ENSP00000432053.1:n.536+2T>C | |
| ENST00000530704.5:c.*159+2T>C | ENSP00000431655.1:n.*159+2T>C | |
| NM_000310.3:c.536+2T>C , LRG_690t1:c.536+2T>C | NP_000301.1:n.536+2T>C | |
| NM_001142604.1:c.227+2T>C | NP_001136076.1:n.227+2T>C | |
| XM_005271008.1:c.536+2T>C | XP_005271065.1:n.536+2T>C | |
| NM_001363695.1:c.536+2T>C | NP_001350624.1:n.536+2T>C | |
| NM_000310.4:c.536+2T>C MANE Select | NP_000301.1:n.536+2T>C | |
| NM_001142604.2:c.227+2T>C | NP_001136076.1:n.227+2T>C | |
| NM_001363695.2:c.536+2T>C | NP_001350624.1:n.536+2T>C |