Linked Data
ClinVar Variation Id:
288906
dbSNP Id:
rs55875654
ExAC:
1:22161380 G / A
gnomAD v2:
1-22161380-G-A
gnomAD v3:
1-21834887-G-A
gnomAD v4:
1-21834887-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21834887G>A , CM000663.2:g.21834887G>A | GRCh38 |
| NC_000001.10:g.22161380G>A , CM000663.1:g.22161380G>A | GRCh37 |
| NC_000001.9:g.22033967G>A | NCBI36 |
| NG_016740.1:g.107371C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.10512C>T MANE Select | ENSP00000363827.3:p.His3504= | |
| ENST00000374695.7:c.10512C>T | ENSP00000363827.3:p.His3504= | |
| ENST00000471322.2:n.867C>T | ||
| NM_001291860.1:c.10515C>T | NP_001278789.1:p.His3505= | |
| NM_005529.6:c.10512C>T | NP_005520.4:p.His3504= | |
| XM_006710594.2:c.11058C>T | XP_006710657.1:p.His3686= | |
| XM_006710595.2:c.11010C>T | XP_006710658.1:p.His3670= | |
| XM_006710596.2:c.10989C>T | XP_006710659.1:p.His3663= | |
| XM_006710597.2:c.10512C>T | XP_006710660.1:p.His3504= | |
| XM_011541317.1:c.11061C>T | XP_011539619.1:p.His3687= | |
| XM_011541318.1:c.11061C>T | XP_011539620.1:p.His3687= | |
| XM_011541319.1:c.11061C>T | XP_011539621.1:p.His3687= | |
| XM_011541320.1:c.10782C>T | XP_011539622.1:p.His3594= | |
| XM_011541321.1:c.10566C>T | XP_011539623.1:p.His3522= | |
| XM_011541318.2:c.11061C>T | XP_011539620.1:p.His3687= | |
| XM_017001120.1:c.10707C>T | XP_016856609.1:p.His3569= | |
| XM_017001121.1:c.10656C>T | XP_016856610.1:p.His3552= | |
| XM_017001122.1:c.10653C>T | XP_016856611.1:p.His3551= | |
| NM_005529.7:c.10512C>T MANE Select | NP_005520.4:p.His3504= | |
| NM_001291860.2:c.10515C>T | NP_001278789.1:p.His3505= |