Linked Data
ClinVar Variation Id:
379909
dbSNP Id:
rs764051026
ExAC:
1:40542572 T / C
gnomAD v2:
1-40542572-T-C
gnomAD v4:
1-40076900-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40076900T>C , CM000663.2:g.40076900T>C | GRCh38 |
| NC_000001.10:g.40542572T>C , CM000663.1:g.40542572T>C | GRCh37 |
| NC_000001.9:g.40315159T>C | NCBI36 |
| NG_009192.1:g.25571A>G , LRG_690:g.25571A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.737A>G | ENSP00000394863.4:p.Tyr246Cys | |
| ENST00000439754.6:c.726+1660A>G | ENSP00000403207.2:n.726+1660A>G | |
| ENST00000449045.7:c.431A>G | ENSP00000392293.2:p.Tyr144Cys | |
| ENST00000527311.7:c.509A>G | ENSP00000436695.3:p.Tyr170Cys | |
| ENST00000530076.6:c.83A>G | ENSP00000434007.1:p.Tyr28Cys | |
| ENST00000530704.6:c.*363A>G | ENSP00000431655.1:n.*363A>G | |
| ENST00000641083.1:c.718A>G | ||
| ENST00000641236.1:n.977A>G | ||
| ENST00000641319.1:c.740A>G | ENSP00000493128.1:p.Tyr247Cys | |
| ENST00000641381.1:c.162A>G | ||
| ENST00000641471.1:c.827A>G | ENSP00000493146.1:p.Tyr276Cys | |
| ENST00000641691.1:c.*592A>G | ENSP00000492910.1:n.*592A>G | |
| ENST00000641924.1:c.*169A>G | ENSP00000493063.1:n.*169A>G | |
| ENST00000642050.2:c.740A>G MANE Select | ENSP00000493153.1:p.Tyr247Cys | |
| ENST00000372775.2:n.137A>G | ||
| ENST00000433473.7:c.740A>G | ENSP00000394863.3:p.Tyr247Cys | |
| ENST00000439754.5:c.411+1660A>G | ENSP00000403207.1:n.411+1660A>G | |
| ENST00000449045.6:c.431A>G | ENSP00000392293.2:p.Tyr144Cys | |
| ENST00000527311.6:c.515A>G | ENSP00000436695.2:p.Tyr172Cys | |
| ENST00000529905.5:c.740A>G | ENSP00000432053.1:p.Tyr247Cys | |
| ENST00000530076.5:c.83A>G | ENSP00000434007.1:p.Tyr28Cys | |
| ENST00000530704.5:c.*363A>G | ENSP00000431655.1:n.*363A>G | |
| NM_000310.3:c.740A>G , LRG_690t1:c.740A>G | NP_000301.1:p.Tyr247Cys | |
| NM_001142604.1:c.431A>G | NP_001136076.1:p.Tyr144Cys | |
| XM_005271008.1:c.726+1660A>G | XP_005271065.1:n.726+1660A>G | |
| NM_001363695.1:c.726+1660A>G | NP_001350624.1:n.726+1660A>G | |
| NM_000310.4:c.740A>G MANE Select | NP_000301.1:p.Tyr247Cys | |
| NM_001142604.2:c.431A>G | NP_001136076.1:p.Tyr144Cys | |
| NM_001363695.2:c.726+1660A>G | NP_001350624.1:n.726+1660A>G |