Linked Data
ClinVar Variation Id:
2888216
ClinVar RCV Id:
RCV003638437
dbSNP Id:
rs139178605
ExAC:
17:38785054 C / A
gnomAD v2:
17-38785054-C-A
gnomAD v3:
17-40628802-C-A
gnomAD v4:
17-40628802-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40628802C>A , CM000679.2:g.40628802C>A | GRCh38 |
| NC_000017.10:g.38785054C>A , CM000679.1:g.38785054C>A | GRCh37 |
| NC_000017.9:g.36038580C>A | NCBI36 |
| NG_032163.1:g.24050G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264640.9:c.*781G>T | ENSP00000466608.2:n.*781G>T | |
| ENST00000348513.12:c.1219G>T MANE Select | ENSP00000323967.6:p.Asp407Tyr | |
| ENST00000377808.9:c.*206G>T | ENSP00000367039.4:n.*206G>T | |
| ENST00000400122.8:c.*206G>T | ENSP00000411607.2:n.*206G>T | |
| ENST00000469334.6:n.1817G>T | ||
| ENST00000578044.6:c.1009G>T | ENSP00000464511.1:p.Asp337Tyr | |
| ENST00000578112.6:c.*1016G>T | ENSP00000464501.1:n.*1016G>T | |
| ENST00000580419.6:c.*198G>T | ENSP00000462475.2:n.*198G>T | |
| ENST00000642576.1:n.2362G>T | ||
| ENST00000643030.1:n.1842G>T | ||
| ENST00000643255.1:c.*3283G>T | ENSP00000493957.1:n.*3283G>T | |
| ENST00000643318.1:c.1009G>T | ENSP00000494771.1:p.Asp337Tyr | |
| ENST00000643378.1:n.1774G>T | ||
| ENST00000643683.1:c.1219G>T | ENSP00000496094.1:p.Asp407Tyr | |
| ENST00000643893.1:n.1512G>T | ||
| ENST00000644443.1:n.3107G>T | ||
| ENST00000644523.1:n.1265G>T | ||
| ENST00000644527.1:c.991G>T | ENSP00000493974.1:p.Asp331Tyr | |
| ENST00000644701.1:c.*206G>T | ENSP00000496097.1:n.*206G>T | |
| ENST00000644909.1:c.*488G>T | ENSP00000493649.1:n.*488G>T | |
| ENST00000645152.1:n.1882G>T | ||
| ENST00000645227.1:c.*907G>T | ENSP00000495021.1:n.*907G>T | |
| ENST00000646242.1:n.7131G>T | ||
| ENST00000646283.1:c.1027G>T | ENSP00000494537.1:p.Asp343Tyr | |
| ENST00000646401.1:n.2585G>T | ||
| ENST00000646448.1:n.2493G>T | ||
| ENST00000646856.1:c.*1095G>T | ENSP00000494505.1:n.*1095G>T | |
| ENST00000647294.1:c.*1149G>T | ENSP00000494815.1:n.*1149G>T | |
| ENST00000647508.1:c.1114G>T | ENSP00000496445.1:p.Asp372Tyr | |
| ENST00000647515.1:c.*750G>T | ENSP00000495857.1:n.*750G>T | |
| ENST00000348513.10:c.1219G>T | ENSP00000323967.6:p.Asp407Tyr | |
| ENST00000377808.8:c.*206G>T | ENSP00000367039.4:n.*206G>T | |
| ENST00000400122.7:c.*206G>T | ENSP00000411607.2:n.*206G>T | |
| ENST00000431889.6:c.1165G>T | ENSP00000445370.1:p.Asp389Tyr | |
| ENST00000469334.5:n.1806G>T | ||
| ENST00000476049.1:c.*1567G>T | ENSP00000463483.1:n.*1567G>T | |
| ENST00000578044.5:c.1009G>T | ENSP00000464511.1:p.Asp337Tyr | |
| ENST00000578112.5:c.*1016G>T | ENSP00000464501.1:n.*1016G>T | |
| ENST00000580419.5:c.1114G>T | ENSP00000462475.1:p.Asp372Tyr | |
| NM_003079.4:c.1219G>T | NP_003070.3:p.Asp407Tyr | |
| NM_003079.5:c.1219G>T MANE Select | NP_003070.3:p.Asp407Tyr |