Linked Data
ClinVar Variation Id:
206640
ClinVar RCV Id:
RCV000555567
dbSNP Id:
rs750533343
ExAC:
1:40558129 C / T
gnomAD v2:
1-40558129-C-T
gnomAD v3:
1-40092457-C-T
gnomAD v4:
1-40092457-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40092457C>T , CM000663.2:g.40092457C>T | GRCh38 |
| NC_000001.10:g.40558129C>T , CM000663.1:g.40558129C>T | GRCh37 |
| NC_000001.9:g.40330716C>T | NCBI36 |
| NG_009192.1:g.10014G>A , LRG_690:g.10014G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*11G>A | ENSP00000361865.5:n.*11G>A | |
| ENST00000433473.8:c.172G>A | ENSP00000394863.4:p.Glu58Lys | |
| ENST00000439754.6:c.175G>A | ENSP00000403207.2:p.Glu59Lys | |
| ENST00000449045.7:c.125-2945G>A | ENSP00000392293.2:n.125-2945G>A | |
| ENST00000526547.2:c.455G>A | ||
| ENST00000527311.7:c.175G>A | ENSP00000436695.3:p.Glu59Lys | |
| ENST00000530704.6:c.175G>A | ENSP00000431655.1:p.Glu59Lys | |
| ENST00000641083.1:c.153G>A | ||
| ENST00000641236.1:n.187G>A | ||
| ENST00000641319.1:c.175G>A | ENSP00000493128.1:p.Glu59Lys | |
| ENST00000641471.1:c.262G>A | ENSP00000493146.1:p.Glu88Lys | |
| ENST00000641548.1:c.*27G>A | ENSP00000492984.1:n.*27G>A | |
| ENST00000641691.1:c.*27G>A | ENSP00000492910.1:n.*27G>A | |
| ENST00000641924.1:c.124+4658G>A | ENSP00000493063.1:n.124+4658G>A | |
| ENST00000642050.2:c.175G>A MANE Select | ENSP00000493153.1:p.Glu59Lys | |
| ENST00000372779.8:c.262G>A | ENSP00000361865.4:p.Glu88Lys | |
| ENST00000433473.7:c.175G>A | ENSP00000394863.3:p.Glu59Lys | |
| ENST00000449045.6:c.125-2945G>A | ENSP00000392293.2:n.125-2945G>A | |
| ENST00000526547.1:c.25G>A | ENSP00000436481.1:p.Glu9Lys | |
| ENST00000527311.6:c.125-400G>A | ENSP00000436695.2:n.125-400G>A | |
| ENST00000529905.5:c.175G>A | ENSP00000432053.1:p.Glu59Lys | |
| ENST00000530704.5:c.175G>A | ENSP00000431655.1:p.Glu59Lys | |
| NM_000310.3:c.175G>A , LRG_690t1:c.175G>A | NP_000301.1:p.Glu59Lys | |
| NM_001142604.1:c.125-2945G>A | NP_001136076.1:n.125-2945G>A | |
| XM_005271008.1:c.175G>A | XP_005271065.1:p.Glu59Lys | |
| NM_001363695.1:c.175G>A | NP_001350624.1:p.Glu59Lys | |
| NM_000310.4:c.175G>A MANE Select | NP_000301.1:p.Glu59Lys | |
| NM_001142604.2:c.125-2945G>A | NP_001136076.1:n.125-2945G>A | |
| NM_001363695.2:c.175G>A | NP_001350624.1:p.Glu59Lys |