Linked Data
ClinVar Variation Id:
497717
dbSNP Id:
rs139842104
ExAC:
1:22214139 T / C
gnomAD v2:
1-22214139-T-C
gnomAD v3:
1-21887646-T-C
gnomAD v4:
1-21887646-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21887646T>C , CM000663.2:g.21887646T>C | GRCh38 |
| NC_000001.10:g.22214139T>C , CM000663.1:g.22214139T>C | GRCh37 |
| NC_000001.9:g.22086726T>C | NCBI36 |
| NG_016740.1:g.54612A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374673.4:c.539A>G | ||
| ENST00000374695.8:c.732A>G MANE Select | ENSP00000363827.3:p.Thr244= | |
| ENST00000374673.3:n.212A>G | ||
| ENST00000374695.7:c.732A>G | ENSP00000363827.3:p.Thr244= | |
| ENST00000412328.5:n.500A>G | ||
| NM_001291860.1:c.732A>G | NP_001278789.1:p.Thr244= | |
| NM_005529.6:c.732A>G | NP_005520.4:p.Thr244= | |
| XM_006710594.2:c.783A>G | XP_006710657.1:p.Thr261= | |
| XM_006710595.2:c.732A>G | XP_006710658.1:p.Thr244= | |
| XM_006710596.2:c.783A>G | XP_006710659.1:p.Thr261= | |
| XM_006710597.2:c.732A>G | XP_006710660.1:p.Thr244= | |
| XM_011541317.1:c.783A>G | XP_011539619.1:p.Thr261= | |
| XM_011541318.1:c.783A>G | XP_011539620.1:p.Thr261= | |
| XM_011541319.1:c.783A>G | XP_011539621.1:p.Thr261= | |
| XM_011541320.1:c.783A>G | XP_011539622.1:p.Thr261= | |
| XM_011541321.1:c.783A>G | XP_011539623.1:p.Thr261= | |
| XM_011541322.1:c.783A>G | XP_011539624.1:p.Thr261= | |
| XM_011541318.2:c.783A>G | XP_011539620.1:p.Thr261= | |
| XM_017001120.1:c.924A>G | XP_016856609.1:p.Thr308= | |
| XM_017001121.1:c.873A>G | XP_016856610.1:p.Thr291= | |
| XM_017001122.1:c.873A>G | XP_016856611.1:p.Thr291= | |
| NM_005529.7:c.732A>G MANE Select | NP_005520.4:p.Thr244= | |
| NM_001291860.2:c.732A>G | NP_001278789.1:p.Thr244= |