Linked Data
ClinVar Variation Id:
295709
dbSNP Id:
rs146167897
ExAC:
1:22155493 G / A
gnomAD v2:
1-22155493-G-A
gnomAD v3:
1-21829000-G-A
gnomAD v4:
1-21829000-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21829000G>A , CM000663.2:g.21829000G>A | GRCh38 |
| NC_000001.10:g.22155493G>A , CM000663.1:g.22155493G>A | GRCh37 |
| NC_000001.9:g.22028080G>A | NCBI36 |
| NG_016740.1:g.113258C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.12072C>T MANE Select | ENSP00000363827.3:p.Asp4024= | |
| ENST00000374695.7:c.12072C>T | ENSP00000363827.3:p.Asp4024= | |
| ENST00000486901.1:n.1411C>T | ||
| NM_001291860.1:c.12075C>T | NP_001278789.1:p.Asp4025= | |
| NM_005529.6:c.12072C>T | NP_005520.4:p.Asp4024= | |
| XM_006710594.2:c.12636C>T | XP_006710657.1:p.Asp4212= | |
| XM_006710595.2:c.12588C>T | XP_006710658.1:p.Asp4196= | |
| XM_006710596.2:c.12567C>T | XP_006710659.1:p.Asp4189= | |
| XM_006710597.2:c.12090C>T | XP_006710660.1:p.Asp4030= | |
| XM_011541317.1:c.12639C>T | XP_011539619.1:p.Asp4213= | |
| XM_011541318.1:c.12621C>T | XP_011539620.1:p.Asp4207= | |
| XM_011541319.1:c.12639C>T | XP_011539621.1:p.Asp4213= | |
| XM_011541320.1:c.12360C>T | XP_011539622.1:p.Asp4120= | |
| XM_011541321.1:c.12144C>T | XP_011539623.1:p.Asp4048= | |
| XM_011541318.2:c.12621C>T | XP_011539620.1:p.Asp4207= | |
| XM_017001120.1:c.12267C>T | XP_016856609.1:p.Asp4089= | |
| XM_017001121.1:c.12216C>T | XP_016856610.1:p.Asp4072= | |
| XM_017001122.1:c.12213C>T | XP_016856611.1:p.Asp4071= | |
| NM_005529.7:c.12072C>T MANE Select | NP_005520.4:p.Asp4024= | |
| NM_001291860.2:c.12075C>T | NP_001278789.1:p.Asp4025= |