Linked Data
dbSNP Id:
rs760681166
ExAC:
10:73122131 C / A
gnomAD v2:
10-73122131-C-A
gnomAD v4:
10-71362374-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71362374C>A , CM000672.2:g.71362374C>A | GRCh38 |
| NC_000010.10:g.73122131C>A , CM000672.1:g.73122131C>A | GRCh37 |
| NC_000010.9:g.72792137C>A | NCBI36 |
| NG_017066.1:g.48122C>A | |
| NG_017066.2:g.48116C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697843.1:n.2670C>A | ||
| ENST00000373189.6:c.1194C>A MANE Select | ENSP00000362285.5:p.Tyr398Ter | |
| ENST00000479577.2:c.960C>A | ENSP00000493995.1:p.Tyr320Ter | |
| ENST00000642198.1:c.*766C>A | ENSP00000494827.1:n.*766C>A | |
| ENST00000642772.1:c.*94+6131C>A | ENSP00000495041.1:n.*94+6131C>A | |
| ENST00000643042.1:c.815C>A | ENSP00000496674.1:n.815C>A | |
| ENST00000643619.1:c.*777C>A | ENSP00000494378.1:n.*777C>A | |
| ENST00000643752.1:c.*520C>A | ENSP00000495000.1:n.*520C>A | |
| ENST00000644088.1:c.*515C>A | ENSP00000494066.1:n.*515C>A | |
| ENST00000644591.1:c.*520C>A | ENSP00000496664.1:n.*520C>A | |
| ENST00000644895.1:c.*99+6131C>A | ENSP00000493872.1:n.*99+6131C>A | |
| ENST00000645345.1:c.*766C>A | ENSP00000495859.1:n.*766C>A | |
| ENST00000647524.1:c.*777C>A | ENSP00000495077.1:n.*777C>A | |
| ENST00000373189.5:c.1194C>A | ENSP00000362285.5:p.Tyr398Ter | |
| ENST00000469204.1:n.691C>A | ||
| NM_001174098.1:c.*423C>A | NP_001167569.1:n.*423C>A | |
| NM_018344.5:c.1194C>A | NP_060814.4:p.Tyr398Ter | |
| NR_033413.1:n.1168C>A | ||
| NR_033414.1:n.941C>A | ||
| XM_006717910.2:c.960C>A | XP_006717973.1:p.Tyr320Ter | |
| NM_001363518.1:c.960C>A | NP_001350447.1:p.Tyr320Ter | |
| XM_017016377.2:c.756C>A | XP_016871866.1:p.Tyr252Ter | |
| XM_017016378.2:c.576C>A | XP_016871867.1:p.Tyr192Ter | |
| NM_018344.6:c.1194C>A MANE Select | NP_060814.4:p.Tyr398Ter | |
| NM_001174098.2:c.*423C>A | NP_001167569.1:n.*423C>A | |
| NM_001363518.2:c.960C>A | NP_001350447.1:p.Tyr320Ter | |
| NR_033413.2:n.1162C>A | ||
| NR_033414.2:n.935C>A |