Linked Data
ClinVar Variation Id:
295716
dbSNP Id:
rs112494360
ExAC:
1:22157545 G / A
gnomAD v2:
1-22157545-G-A
gnomAD v3:
1-21831052-G-A
gnomAD v4:
1-21831052-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21831052G>A , CM000663.2:g.21831052G>A | GRCh38 |
| NC_000001.10:g.22157545G>A , CM000663.1:g.22157545G>A | GRCh37 |
| NC_000001.9:g.22030132G>A | NCBI36 |
| NG_016740.1:g.111206C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.11601C>T MANE Select | ENSP00000363827.3:p.Tyr3867= | |
| ENST00000374695.7:c.11601C>T | ENSP00000363827.3:p.Tyr3867= | |
| ENST00000635682.1:c.752C>T | ||
| NM_001291860.1:c.11604C>T | NP_001278789.1:p.Tyr3868= | |
| NM_005529.6:c.11601C>T | NP_005520.4:p.Tyr3867= | |
| XM_006710594.2:c.12165C>T | XP_006710657.1:p.Tyr4055= | |
| XM_006710595.2:c.12117C>T | XP_006710658.1:p.Tyr4039= | |
| XM_006710596.2:c.12096C>T | XP_006710659.1:p.Tyr4032= | |
| XM_006710597.2:c.11619C>T | XP_006710660.1:p.Tyr3873= | |
| XM_011541317.1:c.12168C>T | XP_011539619.1:p.Tyr4056= | |
| XM_011541318.1:c.12150C>T | XP_011539620.1:p.Tyr4050= | |
| XM_011541319.1:c.12168C>T | XP_011539621.1:p.Tyr4056= | |
| XM_011541320.1:c.11889C>T | XP_011539622.1:p.Tyr3963= | |
| XM_011541321.1:c.11673C>T | XP_011539623.1:p.Tyr3891= | |
| XM_011541318.2:c.12150C>T | XP_011539620.1:p.Tyr4050= | |
| XM_017001120.1:c.11796C>T | XP_016856609.1:p.Tyr3932= | |
| XM_017001121.1:c.11745C>T | XP_016856610.1:p.Tyr3915= | |
| XM_017001122.1:c.11742C>T | XP_016856611.1:p.Tyr3914= | |
| NM_005529.7:c.11601C>T MANE Select | NP_005520.4:p.Tyr3867= | |
| NM_001291860.2:c.11604C>T | NP_001278789.1:p.Tyr3868= |