Linked Data
ClinVar Variation Id:
774152
ClinVar RCV Id:
RCV000954063
dbSNP Id:
rs33981382
ExAC:
1:17668888 A / G
gnomAD v2:
1-17668888-A-G
gnomAD v3:
1-17342393-A-G
gnomAD v4:
1-17342393-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17342393A>G , CM000663.2:g.17342393A>G | GRCh38 |
| NC_000001.10:g.17668888A>G , CM000663.1:g.17668888A>G | GRCh37 |
| NC_000001.9:g.17541475A>G | NCBI36 |
| NG_023261.2:g.39204A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375448.4:c.926A>G MANE Select | ENSP00000364597.4:p.Tyr309Cys | |
| NM_012387.2:c.926A>G | NP_036519.2:p.Tyr309Cys | |
| XM_011541150.1:c.740A>G | XP_011539452.1:p.Tyr247Cys | |
| XM_011541151.1:c.926A>G | XP_011539453.1:p.Tyr309Cys | |
| XM_011541152.1:c.389A>G | XP_011539454.1:p.Tyr130Cys | |
| XM_011541153.1:c.926A>G | XP_011539455.1:p.Tyr309Cys | |
| XM_011541154.1:c.926A>G | XP_011539456.1:p.Tyr309Cys | |
| XM_011541155.1:c.926A>G | XP_011539457.1:p.Tyr309Cys | |
| XM_011541156.1:c.926A>G | XP_011539458.1:p.Tyr309Cys | |
| XM_011541157.1:c.35A>G | XP_011539459.1:p.Tyr12Cys | |
| XM_011541154.2:c.926A>G | XP_011539456.1:p.Tyr309Cys | |
| NM_012387.3:c.926A>G MANE Select | NP_036519.2:p.Tyr309Cys |