Linked Data
ClinVar Variation Id:
295717
dbSNP Id:
rs200221194
ExAC:
1:22157578 G / A
gnomAD v2:
1-22157578-G-A
gnomAD v3:
1-21831085-G-A
gnomAD v4:
1-21831085-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21831085G>A , CM000663.2:g.21831085G>A | GRCh38 |
| NC_000001.10:g.22157578G>A , CM000663.1:g.22157578G>A | GRCh37 |
| NC_000001.9:g.22030165G>A | NCBI36 |
| NG_016740.1:g.111173C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.11568C>T MANE Select | ENSP00000363827.3:p.Gly3856= | |
| ENST00000374695.7:c.11568C>T | ENSP00000363827.3:p.Gly3856= | |
| ENST00000635682.1:c.719C>T | ||
| NM_001291860.1:c.11571C>T | NP_001278789.1:p.Gly3857= | |
| NM_005529.6:c.11568C>T | NP_005520.4:p.Gly3856= | |
| XM_006710594.2:c.12132C>T | XP_006710657.1:p.Gly4044= | |
| XM_006710595.2:c.12084C>T | XP_006710658.1:p.Gly4028= | |
| XM_006710596.2:c.12063C>T | XP_006710659.1:p.Gly4021= | |
| XM_006710597.2:c.11586C>T | XP_006710660.1:p.Gly3862= | |
| XM_011541317.1:c.12135C>T | XP_011539619.1:p.Gly4045= | |
| XM_011541318.1:c.12117C>T | XP_011539620.1:p.Gly4039= | |
| XM_011541319.1:c.12135C>T | XP_011539621.1:p.Gly4045= | |
| XM_011541320.1:c.11856C>T | XP_011539622.1:p.Gly3952= | |
| XM_011541321.1:c.11640C>T | XP_011539623.1:p.Gly3880= | |
| XM_011541318.2:c.12117C>T | XP_011539620.1:p.Gly4039= | |
| XM_017001120.1:c.11763C>T | XP_016856609.1:p.Gly3921= | |
| XM_017001121.1:c.11712C>T | XP_016856610.1:p.Gly3904= | |
| XM_017001122.1:c.11709C>T | XP_016856611.1:p.Gly3903= | |
| NM_005529.7:c.11568C>T MANE Select | NP_005520.4:p.Gly3856= | |
| NM_001291860.2:c.11571C>T | NP_001278789.1:p.Gly3857= |