Linked Data
dbSNP Id:
rs748093520
ExAC:
22:42457049 T / C
gnomAD v2:
22-42457049-T-C
gnomAD v4:
22-42061045-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42061045T>C , CM000684.2:g.42061045T>C | GRCh38 |
| NC_000022.10:g.42457049T>C , CM000684.1:g.42457049T>C | GRCh37 |
| NC_000022.9:g.40786995T>C | NCBI36 |
| NG_009247.1:g.14798A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396398.8:c.980A>G MANE Select | ENSP00000379680.3:p.Tyr327Cys | |
| ENST00000396398.7:c.980A>G | ENSP00000379680.3:p.Tyr327Cys | |
| ENST00000402937.1:c.980A>G | ENSP00000384603.1:p.Tyr327Cys | |
| ENST00000403363.5:c.980A>G | ENSP00000385283.1:p.Tyr327Cys | |
| NM_000262.2:c.980A>G | NP_000253.1:p.Tyr327Cys | |
| XM_005261615.3:c.980A>G | XP_005261672.1:p.Tyr327Cys | |
| XM_005261616.3:c.980A>G | XP_005261673.1:p.Tyr327Cys | |
| NM_001362848.1:c.980A>G | NP_001349777.1:p.Tyr327Cys | |
| NM_001362850.1:c.980A>G | NP_001349779.1:p.Tyr327Cys | |
| NM_000262.3:c.980A>G MANE Select | NP_000253.1:p.Tyr327Cys |