Linked Data
ClinVar Variation Id:
1751490
ClinVar RCV Id:
RCV002360038
dbSNP Id:
rs746245790
ExAC:
11:67257648 A / G
gnomAD v2:
11-67257648-A-G
gnomAD v4:
11-67490177-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490177A>G , CM000673.2:g.67490177A>G | GRCh38 |
| NC_000011.9:g.67257648A>G , CM000673.1:g.67257648A>G | GRCh37 |
| NC_000011.8:g.67014224A>G | NCBI36 |
| NG_008969.1:g.12144A>G , LRG_460:g.12144A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.585A>G | ||
| ENST00000528641.7:c.419A>G | ENSP00000434982.3:p.Tyr140Cys | |
| ENST00000529797.2:n.1120A>G | ||
| ENST00000682324.1:c.468+722A>G | ENSP00000508017.1:n.468+722A>G | |
| ENST00000682659.1:c.239A>G | ENSP00000507351.1:p.Tyr80Cys | |
| ENST00000682699.1:c.608A>G | ENSP00000507935.1:p.Tyr203Cys | |
| ENST00000683237.1:c.608A>G | ENSP00000507343.1:p.Tyr203Cys | |
| ENST00000683856.1:c.431A>G | ENSP00000507979.1:p.Tyr144Cys | |
| ENST00000684006.1:c.608A>G | ENSP00000507269.1:p.Tyr203Cys | |
| ENST00000684657.1:c.428A>G | ENSP00000507961.1:p.Tyr143Cys | |
| ENST00000279146.8:c.608A>G MANE Select | ENSP00000279146.3:p.Tyr203Cys | |
| ENST00000279146.7:c.608A>G | ENSP00000279146.3:p.Tyr203Cys | |
| ENST00000525341.1:c.260A>G | ENSP00000476993.1:p.Tyr87Cys | |
| ENST00000528641.6:c.419A>G | ENSP00000434982.2:p.Tyr140Cys | |
| NM_001302959.1:c.431A>G | NP_001289888.1:p.Tyr144Cys | |
| NM_001302960.1:c.608A>G | NP_001289889.1:p.Tyr203Cys | |
| NM_003977.3:c.608A>G | NP_003968.3:p.Tyr203Cys | |
| XM_024448761.1:c.608A>G | XP_024304529.1:p.Tyr203Cys | |
| NM_003977.4:c.608A>G MANE Select | NP_003968.3:p.Tyr203Cys | |
| NM_001302960.2:c.608A>G | NP_001289889.1:p.Tyr203Cys | |
| NM_001302959.2:c.431A>G | NP_001289888.1:p.Tyr144Cys |