Linked Data
ClinVar Variation Id:
520610
dbSNP Id:
rs143657539
ExAC:
1:40557726 C / T
gnomAD v2:
1-40557726-C-T
gnomAD v3:
1-40092054-C-T
gnomAD v4:
1-40092054-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40092054C>T , CM000663.2:g.40092054C>T | GRCh38 |
| NC_000001.10:g.40557726C>T , CM000663.1:g.40557726C>T | GRCh37 |
| NC_000001.9:g.40330313C>T | NCBI36 |
| NG_009192.1:g.10417G>A , LRG_690:g.10417G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*189G>A | ENSP00000361865.5:n.*189G>A | |
| ENST00000433473.8:c.350G>A | ENSP00000394863.4:p.Gly117Asp | |
| ENST00000439754.6:c.353G>A | ENSP00000403207.2:p.Gly118Asp | |
| ENST00000449045.7:c.125-2542G>A | ENSP00000392293.2:n.125-2542G>A | |
| ENST00000526547.2:c.633G>A | ||
| ENST00000527311.7:c.234+344G>A | ENSP00000436695.3:n.234+344G>A | |
| ENST00000530704.6:c.353G>A | ENSP00000431655.1:p.Gly118Asp | |
| ENST00000641083.1:c.331G>A | ||
| ENST00000641236.1:n.590G>A | ||
| ENST00000641319.1:c.353G>A | ENSP00000493128.1:p.Gly118Asp | |
| ENST00000641471.1:c.440G>A | ENSP00000493146.1:p.Gly147Asp | |
| ENST00000641548.1:c.*205G>A | ENSP00000492984.1:n.*205G>A | |
| ENST00000641691.1:c.*205G>A | ENSP00000492910.1:n.*205G>A | |
| ENST00000641924.1:c.124+5061G>A | ENSP00000493063.1:n.124+5061G>A | |
| ENST00000642050.2:c.353G>A MANE Select | ENSP00000493153.1:p.Gly118Asp | |
| ENST00000372779.8:c.440G>A | ENSP00000361865.4:p.Gly147Asp | |
| ENST00000433473.7:c.353G>A | ENSP00000394863.3:p.Gly118Asp | |
| ENST00000439754.5:c.38G>A | ENSP00000403207.1:p.Gly13Asp | |
| ENST00000449045.6:c.125-2542G>A | ENSP00000392293.2:n.125-2542G>A | |
| ENST00000526547.1:c.203G>A | ENSP00000436481.1:p.Gly68Asp | |
| ENST00000527311.6:c.128G>A | ENSP00000436695.2:p.Gly43Asp | |
| ENST00000529905.5:c.353G>A | ENSP00000432053.1:p.Gly118Asp | |
| ENST00000530704.5:c.353G>A | ENSP00000431655.1:p.Gly118Asp | |
| NM_000310.3:c.353G>A , LRG_690t1:c.353G>A | NP_000301.1:p.Gly118Asp | |
| NM_001142604.1:c.125-2542G>A | NP_001136076.1:n.125-2542G>A | |
| XM_005271008.1:c.353G>A | XP_005271065.1:p.Gly118Asp | |
| NM_001363695.1:c.353G>A | NP_001350624.1:p.Gly118Asp | |
| NM_000310.4:c.353G>A MANE Select | NP_000301.1:p.Gly118Asp | |
| NM_001142604.2:c.125-2542G>A | NP_001136076.1:n.125-2542G>A | |
| NM_001363695.2:c.353G>A | NP_001350624.1:p.Gly118Asp |