Linked Data
ClinVar Variation Id:
295758
ClinVar RCV Id:
RCV001518505
dbSNP Id:
rs2228349
ExAC:
1:22167605 C / T
gnomAD v2:
1-22167605-C-T
gnomAD v3:
1-21841112-C-T
gnomAD v4:
1-21841112-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21841112C>T , CM000663.2:g.21841112C>T | GRCh38 |
| NC_000001.10:g.22167605C>T , CM000663.1:g.22167605C>T | GRCh37 |
| NC_000001.9:g.22040192C>T | NCBI36 |
| NG_016740.1:g.101146G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374695.8:c.9502G>A MANE Select | ENSP00000363827.3:p.Ala3168Thr | |
| ENST00000374695.7:c.9502G>A | ENSP00000363827.3:p.Ala3168Thr | |
| NM_001291860.1:c.9505G>A | NP_001278789.1:p.Ala3169Thr | |
| NM_005529.6:c.9502G>A | NP_005520.4:p.Ala3168Thr | |
| XM_006710594.2:c.10048G>A | XP_006710657.1:p.Ala3350Thr | |
| XM_006710595.2:c.10000G>A | XP_006710658.1:p.Ala3334Thr | |
| XM_006710596.2:c.9979G>A | XP_006710659.1:p.Ala3327Thr | |
| XM_006710597.2:c.9502G>A | XP_006710660.1:p.Ala3168Thr | |
| XM_011541317.1:c.10051G>A | XP_011539619.1:p.Ala3351Thr | |
| XM_011541318.1:c.10051G>A | XP_011539620.1:p.Ala3351Thr | |
| XM_011541319.1:c.10051G>A | XP_011539621.1:p.Ala3351Thr | |
| XM_011541320.1:c.9772G>A | XP_011539622.1:p.Ala3258Thr | |
| XM_011541321.1:c.9556G>A | XP_011539623.1:p.Ala3186Thr | |
| XM_011541318.2:c.10051G>A | XP_011539620.1:p.Ala3351Thr | |
| XM_017001120.1:c.9697G>A | XP_016856609.1:p.Ala3233Thr | |
| XM_017001121.1:c.9646G>A | XP_016856610.1:p.Ala3216Thr | |
| XM_017001122.1:c.9643G>A | XP_016856611.1:p.Ala3215Thr | |
| NM_005529.7:c.9502G>A MANE Select | NP_005520.4:p.Ala3168Thr | |
| NM_001291860.2:c.9505G>A | NP_001278789.1:p.Ala3169Thr |