Linked Data
ClinVar Variation Id:
295712
dbSNP Id:
rs760805332
ExAC:
1:22156042 G / A
gnomAD v2:
1-22156042-G-A
gnomAD v3:
1-21829549-G-A
gnomAD v4:
1-21829549-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21829549G>A , CM000663.2:g.21829549G>A | GRCh38 |
| NC_000001.10:g.22156042G>A , CM000663.1:g.22156042G>A | GRCh37 |
| NC_000001.9:g.22028629G>A | NCBI36 |
| NG_016740.1:g.112709C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.11826C>T MANE Select | ENSP00000363827.3:p.Pro3942= | |
| ENST00000374695.7:c.11826C>T | ENSP00000363827.3:p.Pro3942= | |
| ENST00000486901.1:n.1165C>T | ||
| NM_001291860.1:c.11829C>T | NP_001278789.1:p.Pro3943= | |
| NM_005529.6:c.11826C>T | NP_005520.4:p.Pro3942= | |
| XM_006710594.2:c.12390C>T | XP_006710657.1:p.Pro4130= | |
| XM_006710595.2:c.12342C>T | XP_006710658.1:p.Pro4114= | |
| XM_006710596.2:c.12321C>T | XP_006710659.1:p.Pro4107= | |
| XM_006710597.2:c.11844C>T | XP_006710660.1:p.Pro3948= | |
| XM_011541317.1:c.12393C>T | XP_011539619.1:p.Pro4131= | |
| XM_011541318.1:c.12375C>T | XP_011539620.1:p.Pro4125= | |
| XM_011541319.1:c.12393C>T | XP_011539621.1:p.Pro4131= | |
| XM_011541320.1:c.12114C>T | XP_011539622.1:p.Pro4038= | |
| XM_011541321.1:c.11898C>T | XP_011539623.1:p.Pro3966= | |
| XM_011541318.2:c.12375C>T | XP_011539620.1:p.Pro4125= | |
| XM_017001120.1:c.12021C>T | XP_016856609.1:p.Pro4007= | |
| XM_017001121.1:c.11970C>T | XP_016856610.1:p.Pro3990= | |
| XM_017001122.1:c.11967C>T | XP_016856611.1:p.Pro3989= | |
| NM_005529.7:c.11826C>T MANE Select | NP_005520.4:p.Pro3942= | |
| NM_001291860.2:c.11829C>T | NP_001278789.1:p.Pro3943= |