Linked Data
ClinVar Variation Id:
8899
dbSNP Id:
rs137852695
ExAC:
1:40557070 T / A
gnomAD v2:
1-40557070-T-A
gnomAD v3:
1-40091398-T-A
gnomAD v4:
1-40091398-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40091398T>A , CM000663.2:g.40091398T>A | GRCh38 |
| NC_000001.10:g.40557070T>A , CM000663.1:g.40557070T>A | GRCh37 |
| NC_000001.9:g.40329657T>A | NCBI36 |
| NG_009192.1:g.11073A>T , LRG_690:g.11073A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372779.9:c.*200A>T | ENSP00000361865.5:n.*200A>T | |
| ENST00000433473.8:c.361A>T | ENSP00000394863.4:p.Arg121Trp | |
| ENST00000439754.6:c.364A>T | ENSP00000403207.2:p.Arg122Trp | |
| ENST00000449045.7:c.125-1886A>T | ENSP00000392293.2:n.125-1886A>T | |
| ENST00000526547.2:c.644A>T | ||
| ENST00000527311.7:c.236A>T | ENSP00000436695.3:p.Glu79Val | |
| ENST00000530704.6:c.364A>T | ENSP00000431655.1:p.Arg122Trp | |
| ENST00000641083.1:c.342A>T | ||
| ENST00000641236.1:n.601A>T | ||
| ENST00000641319.1:c.364A>T | ENSP00000493128.1:p.Arg122Trp | |
| ENST00000641471.1:c.451A>T | ENSP00000493146.1:p.Arg151Trp | |
| ENST00000641548.1:c.*216A>T | ENSP00000492984.1:n.*216A>T | |
| ENST00000641691.1:c.*216A>T | ENSP00000492910.1:n.*216A>T | |
| ENST00000641924.1:c.124+5717A>T | ENSP00000493063.1:n.124+5717A>T | |
| ENST00000642050.2:c.364A>T MANE Select | ENSP00000493153.1:p.Arg122Trp | |
| ENST00000372779.8:c.451A>T | ENSP00000361865.4:p.Arg151Trp | |
| ENST00000433473.7:c.364A>T | ENSP00000394863.3:p.Arg122Trp | |
| ENST00000439754.5:c.49A>T | ENSP00000403207.1:p.Arg17Trp | |
| ENST00000449045.6:c.125-1886A>T | ENSP00000392293.2:n.125-1886A>T | |
| ENST00000526547.1:c.214A>T | ENSP00000436481.1:p.Arg72Trp | |
| ENST00000527311.6:c.139A>T | ENSP00000436695.2:p.Arg47Trp | |
| ENST00000529905.5:c.364A>T | ENSP00000432053.1:p.Arg122Trp | |
| ENST00000530704.5:c.364A>T | ENSP00000431655.1:p.Arg122Trp | |
| NM_000310.3:c.364A>T , LRG_690t1:c.364A>T | NP_000301.1:p.Arg122Trp | |
| NM_001142604.1:c.125-1886A>T | NP_001136076.1:n.125-1886A>T | |
| XM_005271008.1:c.364A>T | XP_005271065.1:p.Arg122Trp | |
| NM_001363695.1:c.364A>T | NP_001350624.1:p.Arg122Trp | |
| NM_000310.4:c.364A>T MANE Select | NP_000301.1:p.Arg122Trp | |
| NM_001142604.2:c.125-1886A>T | NP_001136076.1:n.125-1886A>T | |
| NM_001363695.2:c.364A>T | NP_001350624.1:p.Arg122Trp |