Linked Data
ClinVar Variation Id:
210794
dbSNP Id:
rs201891953
ExAC:
17:8135414 C / T
gnomAD v2:
17-8135414-C-T
gnomAD v3:
17-8232096-C-T
gnomAD v4:
17-8232096-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8232096C>T , CM000679.2:g.8232096C>T | GRCh38 |
| NC_000017.10:g.8135414C>T , CM000679.1:g.8135414C>T | GRCh37 |
| NC_000017.9:g.8076139C>T | NCBI36 |
| NG_032148.1:g.21000G>A | |
| NG_032148.2:g.21000G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580299.2:c.2192G>A | ENSP00000462607.2:p.Arg731Gln | |
| ENST00000581729.2:c.2192G>A | ENSP00000462720.2:p.Arg731Gln | |
| ENST00000581967.2:n.2644G>A | ||
| ENST00000583254.2:n.2898G>A | ||
| ENST00000699849.1:c.1295G>A | ENSP00000514647.1:p.Arg432Gln | |
| ENST00000699850.1:n.1455G>A | ||
| ENST00000699851.1:n.2214G>A | ||
| ENST00000699852.1:c.*868G>A | ENSP00000514648.1:n.*868G>A | |
| ENST00000699853.1:c.2192G>A | ENSP00000514649.1:p.Arg731Gln | |
| ENST00000699854.1:n.1985G>A | ||
| ENST00000699855.1:n.2644G>A | ||
| ENST00000699856.1:c.2192G>A | ENSP00000514650.1:p.Arg731Gln | |
| ENST00000699857.1:n.2200G>A | ||
| ENST00000699858.1:c.*805G>A | ENSP00000514651.1:n.*805G>A | |
| ENST00000699859.1:c.2063G>A | ENSP00000514652.1:p.Arg688Gln | |
| ENST00000699860.1:n.298G>A | ||
| ENST00000699861.1:n.2214G>A | ||
| ENST00000699862.1:n.3152G>A | ||
| ENST00000449476.7:c.2087G>A | ENSP00000396018.2:p.Arg696Gln | |
| ENST00000581671.2:n.2181G>A | ||
| ENST00000643543.1:c.*899G>A | ENSP00000494323.1:n.*899G>A | |
| ENST00000651323.1:c.2192G>A MANE Select | ENSP00000498499.1:p.Arg731Gln | |
| ENST00000315684.12:c.2192G>A | ENSP00000313759.8:p.Arg731Gln | |
| ENST00000449476.6:c.2087G>A | ENSP00000396018.2:p.Arg696Gln | |
| ENST00000578240.1:n.420G>A | ||
| ENST00000578537.1:c.88G>A | ||
| NM_025099.5:c.2192G>A | NP_079375.3:p.Arg731Gln | |
| NR_046431.1:n.2146G>A | ||
| XM_006721577.2:c.2063G>A | XP_006721640.1:p.Arg688Gln | |
| XM_006721578.2:c.2192G>A | XP_006721641.1:p.Arg731Gln | |
| XM_006721579.2:c.2192G>A | XP_006721642.1:p.Arg731Gln | |
| XM_011524010.1:c.2087G>A | XP_011522312.1:p.Arg696Gln | |
| XM_011524011.1:c.1295G>A | XP_011522313.1:p.Arg432Gln | |
| XR_429823.2:n.2235G>A | ||
| XR_429824.2:n.2235G>A | ||
| XR_429825.1:n.2235G>A | ||
| NM_025099.6:c.2192G>A MANE Select | NP_079375.3:p.Arg731Gln | |
| XM_006721577.3:c.2063G>A | XP_006721640.1:p.Arg688Gln | |
| XM_006721578.3:c.2192G>A | XP_006721641.1:p.Arg731Gln | |
| XM_011524010.2:c.2087G>A | XP_011522312.1:p.Arg696Gln | |
| XM_011524011.2:c.1295G>A | XP_011522313.1:p.Arg432Gln | |
| XR_001752639.1:n.2106G>A | ||
| XR_001752640.1:n.2235G>A | ||
| XR_001752641.1:n.2235G>A | ||
| XR_001752642.1:n.2235G>A | ||
| XR_001752643.1:n.2665G>A | ||
| XR_002958073.1:n.2235G>A | ||
| XR_429823.3:n.2235G>A | ||
| XR_429824.3:n.2235G>A | ||
| NR_046431.2:n.2107G>A |