Linked Data
ClinVar Variation Id:
2629482
dbSNP Id:
rs767187212
ExAC:
4:6302961 A / G
gnomAD v2:
4-6302961-A-G
gnomAD v4:
4-6301234-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301234A>G , CM000666.2:g.6301234A>G | GRCh38 |
| NC_000004.11:g.6302961A>G , CM000666.1:g.6302961A>G | GRCh37 |
| NC_000004.10:g.6353862A>G | NCBI36 |
| NG_011700.1:g.36385A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1475A>G | ENSP00000507852.1:p.Tyr492Cys | |
| ENST00000683395.1:c.1416A>G | ||
| ENST00000684087.1:c.1439A>G | ENSP00000506978.1:p.Tyr480Cys | |
| ENST00000506362.2:c.1190A>G | ENSP00000424103.2:p.Tyr397Cys | |
| ENST00000673642.1:c.1098A>G | ENSP00000501242.1:p.Leu366= | |
| ENST00000673991.1:c.1475A>G | ENSP00000501033.1:p.Tyr492Cys | |
| ENST00000226760.5:c.1439A>G MANE Select | ENSP00000226760.1:p.Tyr480Cys | |
| ENST00000503569.5:c.1439A>G | ENSP00000423337.1:p.Tyr480Cys | |
| ENST00000507765.1:n.1624A>G | ||
| NM_001145853.1:c.1439A>G | NP_001139325.1:p.Tyr480Cys | |
| NM_006005.3:c.1439A>G MANE Select | NP_005996.2:p.Tyr480Cys | |
| XM_017008586.1:c.1448A>G | XP_016864075.1:p.Tyr483Cys |