Linked Data
ClinVar Variation Id:
295809
dbSNP Id:
rs756830539
ExAC:
1:22179269 A / G
gnomAD v2:
1-22179269-A-G
gnomAD v3:
1-21852776-A-G
gnomAD v4:
1-21852776-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21852776A>G , CM000663.2:g.21852776A>G | GRCh38 |
| NC_000001.10:g.22179269A>G , CM000663.1:g.22179269A>G | GRCh37 |
| NC_000001.9:g.22051856A>G | NCBI36 |
| NG_016740.1:g.89482T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.6648T>C MANE Select | ENSP00000363827.3:p.Tyr2216= | |
| ENST00000374695.7:c.6648T>C | ENSP00000363827.3:p.Tyr2216= | |
| ENST00000493940.2:n.304+188T>C | ||
| NM_001291860.1:c.6651T>C | NP_001278789.1:p.Tyr2217= | |
| NM_005529.6:c.6648T>C | NP_005520.4:p.Tyr2216= | |
| XM_006710594.2:c.7194T>C | XP_006710657.1:p.Tyr2398= | |
| XM_006710595.2:c.7146T>C | XP_006710658.1:p.Tyr2382= | |
| XM_006710596.2:c.7125T>C | XP_006710659.1:p.Tyr2375= | |
| XM_006710597.2:c.6648T>C | XP_006710660.1:p.Tyr2216= | |
| XM_011541317.1:c.7197T>C | XP_011539619.1:p.Tyr2399= | |
| XM_011541318.1:c.7197T>C | XP_011539620.1:p.Tyr2399= | |
| XM_011541319.1:c.7197T>C | XP_011539621.1:p.Tyr2399= | |
| XM_011541320.1:c.7140+143T>C | XP_011539622.1:n.7140+143T>C | |
| XM_011541321.1:c.6702T>C | XP_011539623.1:p.Tyr2234= | |
| XM_011541322.1:c.7197T>C | XP_011539624.1:p.Tyr2399= | |
| XM_011541318.2:c.7197T>C | XP_011539620.1:p.Tyr2399= | |
| XM_017001120.1:c.6843T>C | XP_016856609.1:p.Tyr2281= | |
| XM_017001121.1:c.6792T>C | XP_016856610.1:p.Tyr2264= | |
| XM_017001122.1:c.6789T>C | XP_016856611.1:p.Tyr2263= | |
| NM_005529.7:c.6648T>C MANE Select | NP_005520.4:p.Tyr2216= | |
| NM_001291860.2:c.6651T>C | NP_001278789.1:p.Tyr2217= |