Linked Data
ClinVar Variation Id:
569
dbSNP Id:
rs267607058
ExAC:
10:73122283 C / G
gnomAD v2:
10-73122283-C-G
gnomAD v4:
10-71362526-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71362526C>G , CM000672.2:g.71362526C>G | GRCh38 |
| NC_000010.10:g.73122283C>G , CM000672.1:g.73122283C>G | GRCh37 |
| NC_000010.9:g.72792289C>G | NCBI36 |
| NG_017066.1:g.48274C>G | |
| NG_017066.2:g.48268C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697843.1:n.2822C>G | ||
| ENST00000373189.6:c.1346C>G MANE Select | ENSP00000362285.5:p.Thr449Arg | |
| ENST00000479577.2:c.1112C>G | ENSP00000493995.1:p.Thr371Arg | |
| ENST00000642198.1:c.*918C>G | ENSP00000494827.1:n.*918C>G | |
| ENST00000642772.1:c.*94+6283C>G | ENSP00000495041.1:n.*94+6283C>G | |
| ENST00000643042.1:c.967C>G | ENSP00000496674.1:n.967C>G | |
| ENST00000643619.1:c.*929C>G | ENSP00000494378.1:n.*929C>G | |
| ENST00000643752.1:c.*672C>G | ENSP00000495000.1:n.*672C>G | |
| ENST00000644088.1:c.*667C>G | ENSP00000494066.1:n.*667C>G | |
| ENST00000644591.1:c.*672C>G | ENSP00000496664.1:n.*672C>G | |
| ENST00000644895.1:c.*99+6283C>G | ENSP00000493872.1:n.*99+6283C>G | |
| ENST00000645345.1:c.*918C>G | ENSP00000495859.1:n.*918C>G | |
| ENST00000647524.1:c.*929C>G | ENSP00000495077.1:n.*929C>G | |
| ENST00000373189.5:c.1346C>G | ENSP00000362285.5:p.Thr449Arg | |
| NM_001174098.1:c.*575C>G | NP_001167569.1:n.*575C>G | |
| NM_018344.5:c.1346C>G | NP_060814.4:p.Thr449Arg | |
| NR_033413.1:n.1320C>G | ||
| NR_033414.1:n.1093C>G | ||
| XM_006717910.2:c.1112C>G | XP_006717973.1:p.Thr371Arg | |
| NM_001363518.1:c.1112C>G | NP_001350447.1:p.Thr371Arg | |
| XM_017016377.2:c.908C>G | XP_016871866.1:p.Thr303Arg | |
| XM_017016378.2:c.728C>G | XP_016871867.1:p.Thr243Arg | |
| NM_018344.6:c.1346C>G MANE Select | NP_060814.4:p.Thr449Arg | |
| NM_001174098.2:c.*575C>G | NP_001167569.1:n.*575C>G | |
| NM_001363518.2:c.1112C>G | NP_001350447.1:p.Thr371Arg | |
| NR_033413.2:n.1314C>G | ||
| NR_033414.2:n.1087C>G |