Linked Data
ClinVar Variation Id:
373625
ClinVar RCV Id:
RCV000414636
dbSNP Id:
rs1057518512
gnomAD v3:
1-77917603-A-G
gnomAD v4:
1-77917603-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77917603A>G , CM000663.2:g.77917603A>G | GRCh38 |
| NC_000001.10:g.78383288A>G , CM000663.1:g.78383288A>G | GRCh37 |
| NC_000001.9:g.78155876A>G | NCBI36 |
| NG_016625.1:g.34089A>G , LRG_442:g.34089A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334785.12:c.65A>G MANE Select | ENSP00000333938.7:p.Tyr22Cys | |
| ENST00000330010.12:c.28-357A>G | ENSP00000327363.8:n.28-357A>G | |
| ENST00000334785.11:c.65A>G | ENSP00000333938.7:p.Tyr22Cys | |
| ENST00000401035.7:c.28-357A>G | ENSP00000383814.3:n.28-357A>G | |
| ENST00000440324.5:c.65A>G | ENSP00000411902.1:p.Tyr22Cys | |
| NM_001172309.1:c.28-357A>G | NP_001165780.1:n.28-357A>G | |
| NM_144573.3:c.65A>G , LRG_442t1:c.65A>G | NP_653174.3:p.Tyr22Cys | |
| XM_005271322.2:c.65A>G | XP_005271379.1:p.Tyr22Cys | |
| XM_005271323.2:c.65A>G | XP_005271380.1:p.Tyr22Cys | |
| XM_005271324.3:c.28-357A>G | XP_005271381.1:n.28-357A>G | |
| XM_005271325.2:c.65A>G | XP_005271382.1:p.Tyr22Cys | |
| XM_005271326.2:c.28-357A>G | XP_005271383.1:n.28-357A>G | |
| XM_005271327.2:c.65A>G | XP_005271384.1:p.Tyr22Cys | |
| XM_005271322.4:c.65A>G | XP_005271379.1:p.Tyr22Cys | |
| XM_005271323.4:c.65A>G | XP_005271380.1:p.Tyr22Cys | |
| XM_005271324.5:c.28-357A>G | XP_005271381.1:n.28-357A>G | |
| XM_005271325.4:c.65A>G | XP_005271382.1:p.Tyr22Cys | |
| XM_005271326.4:c.28-357A>G | XP_005271383.1:n.28-357A>G | |
| XM_005271327.4:c.65A>G | XP_005271384.1:p.Tyr22Cys | |
| NM_001172309.2:c.28-357A>G | NP_001165780.1:n.28-357A>G | |
| NM_144573.4:c.65A>G MANE Select | NP_653174.3:p.Tyr22Cys |