Linked Data
ClinVar Variation Id:
380711
dbSNP Id:
rs112553480
ExAC:
1:40557076 G / A
gnomAD v2:
1-40557076-G-A
gnomAD v3:
1-40091404-G-A
gnomAD v4:
1-40091404-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40091404G>A , CM000663.2:g.40091404G>A | GRCh38 |
| NC_000001.10:g.40557076G>A , CM000663.1:g.40557076G>A | GRCh37 |
| NC_000001.9:g.40329663G>A | NCBI36 |
| NG_009192.1:g.11067C>T , LRG_690:g.11067C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*199-5C>T | ENSP00000361865.5:n.*199-5C>T | |
| ENST00000433473.8:c.360-5C>T | ENSP00000394863.4:n.360-5C>T | |
| ENST00000439754.6:c.363-5C>T | ENSP00000403207.2:n.363-5C>T | |
| ENST00000449045.7:c.125-1892C>T | ENSP00000392293.2:n.125-1892C>T | |
| ENST00000526547.2:c.643-5C>T | ||
| ENST00000527311.7:c.235-5C>T | ENSP00000436695.3:n.235-5C>T | |
| ENST00000530704.6:c.363-5C>T | ENSP00000431655.1:n.363-5C>T | |
| ENST00000641083.1:c.341-5C>T | ||
| ENST00000641236.1:n.600-5C>T | ||
| ENST00000641319.1:c.363-5C>T | ENSP00000493128.1:n.363-5C>T | |
| ENST00000641471.1:c.450-5C>T | ENSP00000493146.1:n.450-5C>T | |
| ENST00000641548.1:c.*215-5C>T | ENSP00000492984.1:n.*215-5C>T | |
| ENST00000641691.1:c.*215-5C>T | ENSP00000492910.1:n.*215-5C>T | |
| ENST00000641924.1:c.124+5711C>T | ENSP00000493063.1:n.124+5711C>T | |
| ENST00000642050.2:c.363-5C>T MANE Select | ENSP00000493153.1:n.363-5C>T | |
| ENST00000372779.8:c.450-5C>T | ENSP00000361865.4:n.450-5C>T | |
| ENST00000433473.7:c.363-5C>T | ENSP00000394863.3:n.363-5C>T | |
| ENST00000439754.5:c.48-5C>T | ENSP00000403207.1:n.48-5C>T | |
| ENST00000449045.6:c.125-1892C>T | ENSP00000392293.2:n.125-1892C>T | |
| ENST00000526547.1:c.213-5C>T | ENSP00000436481.1:n.213-5C>T | |
| ENST00000527311.6:c.138-5C>T | ENSP00000436695.2:n.138-5C>T | |
| ENST00000529905.5:c.363-5C>T | ENSP00000432053.1:n.363-5C>T | |
| ENST00000530704.5:c.363-5C>T | ENSP00000431655.1:n.363-5C>T | |
| NM_000310.3:c.363-5C>T , LRG_690t1:c.363-5C>T | NP_000301.1:n.363-5C>T | |
| NM_001142604.1:c.125-1892C>T | NP_001136076.1:n.125-1892C>T | |
| XM_005271008.1:c.363-5C>T | XP_005271065.1:n.363-5C>T | |
| NM_001363695.1:c.363-5C>T | NP_001350624.1:n.363-5C>T | |
| NM_000310.4:c.363-5C>T MANE Select | NP_000301.1:n.363-5C>T | |
| NM_001142604.2:c.125-1892C>T | NP_001136076.1:n.125-1892C>T | |
| NM_001363695.2:c.363-5C>T | NP_001350624.1:n.363-5C>T |