Linked Data
ClinVar Variation Id:
295866
dbSNP Id:
rs368807853
ExAC:
1:22202346 T / A
gnomAD v2:
1-22202346-T-A
gnomAD v3:
1-21875853-T-A
gnomAD v4:
1-21875853-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21875853T>A , CM000663.2:g.21875853T>A | GRCh38 |
| NC_000001.10:g.22202346T>A , CM000663.1:g.22202346T>A | GRCh37 |
| NC_000001.9:g.22074933T>A | NCBI36 |
| NG_016740.1:g.66405A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.3183+10A>T MANE Select | ENSP00000363827.3:n.3183+10A>T | |
| ENST00000374695.7:c.3183+10A>T | ENSP00000363827.3:n.3183+10A>T | |
| NM_001291860.1:c.3186+10A>T | NP_001278789.1:n.3186+10A>T | |
| NM_005529.6:c.3183+10A>T | NP_005520.4:n.3183+10A>T | |
| XM_006710594.2:c.3234+10A>T | XP_006710657.1:n.3234+10A>T | |
| XM_006710595.2:c.3186+10A>T | XP_006710658.1:n.3186+10A>T | |
| XM_006710596.2:c.3237+10A>T | XP_006710659.1:n.3237+10A>T | |
| XM_006710597.2:c.3183+10A>T | XP_006710660.1:n.3183+10A>T | |
| XM_011541317.1:c.3237+10A>T | XP_011539619.1:n.3237+10A>T | |
| XM_011541318.1:c.3237+10A>T | XP_011539620.1:n.3237+10A>T | |
| XM_011541319.1:c.3237+10A>T | XP_011539621.1:n.3237+10A>T | |
| XM_011541320.1:c.3237+10A>T | XP_011539622.1:n.3237+10A>T | |
| XM_011541321.1:c.3237+10A>T | XP_011539623.1:n.3237+10A>T | |
| XM_011541322.1:c.3237+10A>T | XP_011539624.1:n.3237+10A>T | |
| XM_011541318.2:c.3237+10A>T | XP_011539620.1:n.3237+10A>T | |
| XM_017001120.1:c.3378+10A>T | XP_016856609.1:n.3378+10A>T | |
| XM_017001121.1:c.3327+10A>T | XP_016856610.1:n.3327+10A>T | |
| XM_017001122.1:c.3324+10A>T | XP_016856611.1:n.3324+10A>T | |
| NM_005529.7:c.3183+10A>T MANE Select | NP_005520.4:n.3183+10A>T | |
| NM_001291860.2:c.3186+10A>T | NP_001278789.1:n.3186+10A>T |