Linked Data
ClinVar Variation Id:
502644
dbSNP Id:
rs773321774
ExAC:
10:73111496 C / T
gnomAD v2:
10-73111496-C-T
gnomAD v3:
10-71351739-C-T
gnomAD v4:
10-71351739-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71351739C>T , CM000672.2:g.71351739C>T | GRCh38 |
| NC_000010.10:g.73111496C>T , CM000672.1:g.73111496C>T | GRCh37 |
| NC_000010.9:g.72781502C>T | NCBI36 |
| NG_017066.1:g.37487C>T | |
| NG_017066.2:g.37481C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697843.1:n.1007C>T | ||
| ENST00000373189.6:c.561C>T MANE Select | ENSP00000362285.5:p.Tyr187= | |
| ENST00000479577.2:c.327C>T | ENSP00000493995.1:p.Tyr109= | |
| ENST00000642198.1:c.244C>T | ENSP00000494827.1:p.Arg82Trp | |
| ENST00000642772.1:c.301-4342C>T | ENSP00000495041.1:n.301-4342C>T | |
| ENST00000643042.1:c.232-4342C>T | ENSP00000496674.1:n.232-4342C>T | |
| ENST00000643619.1:c.327C>T | ENSP00000494378.1:p.Tyr109= | |
| ENST00000643752.1:c.384-4342C>T | ENSP00000495000.1:n.384-4342C>T | |
| ENST00000644088.1:c.301-4342C>T | ENSP00000494066.1:n.301-4342C>T | |
| ENST00000644591.1:c.478C>T | ENSP00000496664.1:p.Arg160Trp | |
| ENST00000644895.1:c.478C>T | ENSP00000493872.1:p.Arg160Trp | |
| ENST00000645345.1:c.478C>T | ENSP00000495859.1:p.Arg160Trp | |
| ENST00000647524.1:c.561C>T | ENSP00000495077.1:p.Tyr187= | |
| ENST00000373189.5:c.561C>T | ENSP00000362285.5:p.Tyr187= | |
| ENST00000469204.1:n.52C>T | ||
| NM_001174098.1:c.561C>T | NP_001167569.1:p.Tyr187= | |
| NM_018344.5:c.561C>T | NP_060814.4:p.Tyr187= | |
| NR_033413.1:n.535C>T | ||
| NR_033414.1:n.358-4342C>T | ||
| XM_006717910.2:c.327C>T | XP_006717973.1:p.Tyr109= | |
| NM_001363518.1:c.327C>T | NP_001350447.1:p.Tyr109= | |
| XM_017016377.2:c.123C>T | XP_016871866.1:p.Tyr41= | |
| XM_017016378.2:c.-8-4342C>T | XP_016871867.1:n.-8-4342C>T | |
| NM_018344.6:c.561C>T MANE Select | NP_060814.4:p.Tyr187= | |
| NM_001174098.2:c.561C>T | NP_001167569.1:p.Tyr187= | |
| NM_001363518.2:c.327C>T | NP_001350447.1:p.Tyr109= | |
| NR_033413.2:n.529C>T | ||
| NR_033414.2:n.352-4342C>T |