Linked Data
ClinVar Variation Id:
206645
dbSNP Id:
rs796052925
gnomAD v3:
1-40091338-G-A
gnomAD v4:
1-40091338-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40091338G>A , CM000663.2:g.40091338G>A | GRCh38 |
| NC_000001.10:g.40557010G>A , CM000663.1:g.40557010G>A | GRCh37 |
| NC_000001.9:g.40329597G>A | NCBI36 |
| NG_009192.1:g.11133C>T , LRG_690:g.11133C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*260C>T | ENSP00000361865.5:n.*260C>T | |
| ENST00000433473.8:c.421C>T | ENSP00000394863.4:p.Gln141Ter | |
| ENST00000439754.6:c.424C>T | ENSP00000403207.2:p.Gln142Ter | |
| ENST00000449045.7:c.125-1826C>T | ENSP00000392293.2:n.125-1826C>T | |
| ENST00000526547.2:c.704C>T | ||
| ENST00000527311.7:c.296C>T | ENSP00000436695.3:p.Thr99Ile | |
| ENST00000530704.6:c.424C>T | ENSP00000431655.1:p.Gln142Ter | |
| ENST00000641083.1:c.402C>T | ||
| ENST00000641236.1:n.661C>T | ||
| ENST00000641319.1:c.424C>T | ENSP00000493128.1:p.Gln142Ter | |
| ENST00000641381.1:c.36C>T | ||
| ENST00000641471.1:c.511C>T | ENSP00000493146.1:p.Gln171Ter | |
| ENST00000641548.1:c.*276C>T | ENSP00000492984.1:n.*276C>T | |
| ENST00000641691.1:c.*276C>T | ENSP00000492910.1:n.*276C>T | |
| ENST00000641924.1:c.124+5777C>T | ENSP00000493063.1:n.124+5777C>T | |
| ENST00000642050.2:c.424C>T MANE Select | ENSP00000493153.1:p.Gln142Ter | |
| ENST00000372779.8:c.511C>T | ENSP00000361865.4:p.Gln171Ter | |
| ENST00000433473.7:c.424C>T | ENSP00000394863.3:p.Gln142Ter | |
| ENST00000439754.5:c.109C>T | ENSP00000403207.1:p.Gln37Ter | |
| ENST00000449045.6:c.125-1826C>T | ENSP00000392293.2:n.125-1826C>T | |
| ENST00000526547.1:c.274C>T | ENSP00000436481.1:p.Gln92Ter | |
| ENST00000527311.6:c.199C>T | ENSP00000436695.2:p.Gln67Ter | |
| ENST00000529905.5:c.424C>T | ENSP00000432053.1:p.Gln142Ter | |
| ENST00000530704.5:c.424C>T | ENSP00000431655.1:p.Gln142Ter | |
| NM_000310.3:c.424C>T , LRG_690t1:c.424C>T | NP_000301.1:p.Gln142Ter | |
| NM_001142604.1:c.125-1826C>T | NP_001136076.1:n.125-1826C>T | |
| XM_005271008.1:c.424C>T | XP_005271065.1:p.Gln142Ter | |
| NM_001363695.1:c.424C>T | NP_001350624.1:p.Gln142Ter | |
| NM_000310.4:c.424C>T MANE Select | NP_000301.1:p.Gln142Ter | |
| NM_001142604.2:c.125-1826C>T | NP_001136076.1:n.125-1826C>T | |
| NM_001363695.2:c.424C>T | NP_001350624.1:p.Gln142Ter |